POMGNT1 gene related symptoms and diseases
All the information presented here about the POMGNT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to POMGNT1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Muscle weakness | Common - Between 50% and 80% cases |
| Myopia | Common - Between 50% and 80% cases |
| Optic atrophy | Common - Between 50% and 80% cases |
| Elevated serum creatine phosphokinase | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with POMGNT1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Muscular dystrophy
Not very common - Between 30% and 50% cases
- Glaucoma
- Microcephaly
- Cataract
- Congenital muscular dystrophy
- Cerebellar hypoplasia
- Dilatation
- Cerebellar cyst
And 173 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POMGNT1 gene
Here you will find a list of rare diseases related to the POMGNT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O
Alternate names
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O Is also known as lgmdr15, muscular dystrophy, limb-girdle, type 2o, muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related, lgmd2o, muscular dystrophy, limb-girdle, autosomal recessive 15
Description
Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.
Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O
- Muscle weakness
- Motor delay
- Myopia
- Skeletal muscle atrophy
- Fatigue
More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O
RETINITIS PIGMENTOSA
Description
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Most common symptoms of RETINITIS PIGMENTOSA
- Intellectual disability
- Nystagmus
- Sensorineural hearing impairment
- Cataract
- Visual impairment
More info about RETINITIS PIGMENTOSA
SOURCES: ORPHANET
MUSCLE-EYE-BRAIN DISEASE
Alternate names
MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome, santavuori congenital muscular dystrophy, walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related, muscle-eye-brain syndrome
Description
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).
Most common symptoms of MUSCLE-EYE-BRAIN DISEASE
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about MUSCLE-EYE-BRAIN DISEASE
WALKER-WARBURG SYNDROME
Alternate names
WALKER-WARBURG SYNDROME Is also known as hard syndrome, cerebroocular dysplasia-muscular dystrophy syndrome, hydrocephalus, agyria, and retinal dysplasia, walker-warburg syndrome or muscle-eye-brain disease, pomt1-related, wws, hydrocephalus-agyria-retinal dysplasia syndrome, cod-md syndrome
Description
Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.
Most common symptoms of WALKER-WARBURG SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about WALKER-WARBURG SYNDROME
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3
Alternate names
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3 Is also known as muscular dystrophy, congenital, pomgnt1-related
Description
MDDGB3 is an autosomal recessive congenital muscular dystrophy with mental retardation and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).
Most common symptoms of MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3
- Intellectual disability
- Microcephaly
- Strabismus
- Motor delay
- Myopia
More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3
SOURCES: OMIM
RETINITIS PIGMENTOSA 76; RP76
Most common symptoms of RETINITIS PIGMENTOSA 76; RP76
- Intellectual disability
- Muscle weakness
- Edema
- Blindness
- Rod-cone dystrophy
More info about RETINITIS PIGMENTOSA 76; RP76
SOURCES: OMIM
CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT
Alternate names
CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT Is also known as cmd with cerebellar involvement, cmd-crb
Description
Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscule weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.
More info about CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT
SOURCES: ORPHANET
Search interest in POMGNT1
Potential gene panels for POMGNT1 gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Limb Girdle Muscular Dystrophy Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Limb Girdle Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Muscular Dystrophy Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CCDC78 CAPN3 DNAJB6
More info about this panel United States.
Congenital Muscular Dystrophy Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Muscular Dystrophy Advanced Sequencing Evaluation that also includes the following genes: TCAP RXYLT1 B4GAT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
Retinitis Pigmentosa Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel United States.
Test for POMGNT1-Related Muscle Diseases Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the POMGNT1 gene.
More info about this panel Netherlands.
CMD panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht CMD panel that also includes the following genes: FKRP POMGNT1 POMT2 FKTN POMT1
More info about this panel Netherlands.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
Comprehensive Neuromuscular Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Congenital Muscular Dystrophy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Muscular Dystrophy that also includes the following genes: RYR1 TCAP SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2 COL6A3
More info about this panel United States.
Limb-Girdle Muscular Dystrophy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3
More info about this panel United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel United States.
Cerebral Cortical Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Deletion/Duplication Panel that also includes the following genes: TUBA8 VLDLR ACTB RAB18 ACTG1 RAB3GAP1 RAB3GAP2 FKRP ARX RTTN
More info about this panel United States.
Cerebral Cortical Malformation Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panel United States.
Lissencephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Lissencephaly Sequencing Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 CDK5 FKRP
More info about this panel United States.
Comprehensive Lissencephaly Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Lissencephaly Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 CDK5 FKRP ARX
More info about this panel United States.
Cobblestone Lissencephaly Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cobblestone Lissencephaly Panel that also includes the following genes: SNAP29 RXYLT1 B4GAT1 FKRP ATP6V0A2 POMGNT1 POMT2 GMPPB SRD5A3 POMK
More info about this panel United States.
Congenital Muscular Dystrophy Deletion/Duplication Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Deletion/Duplication Analysis that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panel United States.
Congenital Muscular Dystrophy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panel United States.
Limb-Girdle Muscular Dystrophy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Cerebral Cortical Malformations Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panel United States.
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Congenital Muscular Dystrophy- Dystroglycanopathy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy- Dystroglycanopathy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
POMGNT1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the POMGNT1 gene.
More info about this panel Germany.
Comprehensive Brain Malformations Panel Panel
United States.
By GeneDx Comprehensive Brain Malformations Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 TMEM237 CASK TSEN34 ARFGEF2 NDE1 FKRP
More info about this panel United States.
Cortical Brain Malformations Panel Panel
United States.
By GeneDx Cortical Brain Malformations Panel that also includes the following genes: TUBA8 VLDLR ARFGEF2 NDE1 FKRP ARX POMGNT1 POMT2 TUBA1A TUBB3
More info about this panel United States.
Lissencephaly Panel Panel
United States.
By GeneDx Lissencephaly Panel that also includes the following genes: VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 FKRP ARX ATP6V0A2 POMGNT1
More info about this panel United States.
POMGNT1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the POMGNT1 gene.
More info about this panel Spain.
Muscle-eye-brain disease (sequence analysis of POMGNT1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the POMGNT1 gene.
More info about this panel Portugal.
Limb-girdle muscular dystrophies (NGS panel for 26 genes) Panel
Portugal.
By CGC Genetics Limb-girdle muscular dystrophies (NGS panel for 26 genes) that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Portugal.
Congenital muscular dystrophies (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Congenital muscular dystrophies (NGS panel for 31 genes) that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panel Portugal.
Muscle-eye-brain disease Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the POMGNT1 gene.
More info about this panel Poland.
POMGNT1 Sequencing Panel
United States.
By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics
This panel specifically test the POMGNT1 gene.
More info about this panel United States.
Walker-Warburg Syndrome via POMGNT1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the POMGNT1 gene.
More info about this panel United States.
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panel United States.
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 DNAJB6
More info about this panel United States.
Congenital Muscular Dystrophy Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel United States.
Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
More info about this panel United States.
Limb girdle muscular dystrophy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Comprehensive panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Limb girdle muscular dystrophy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Deletion / Duplication panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Limb girdle muscular dystrophy NGS panel Panel
United States.
By Connective Tissue Gene Tests Limb girdle muscular dystrophy NGS panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Lissencephaly and related disorders NGS test Panel
United States.
By Connective Tissue Gene Tests Lissencephaly and related disorders NGS test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panel United States.
Lissencephaly and related disorders Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Lissencephaly and related disorders Deletion / Duplication test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panel United States.
Lissencephaly and related disorders Comprehensive test Panel
United States.
By Connective Tissue Gene Tests Lissencephaly and related disorders Comprehensive test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panel United States.
Muscular dystrophy, dystroglycanopathy Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Muscular dystrophy, dystroglycanopathy that also includes the following genes: RXYLT1 B3GNT2 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK B3GALNT2 FKTN
More info about this panel Germany.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Alpha-Dystroglycanopathy Panel
Germany.
By MGZ Medical Genetics Center Alpha-Dystroglycanopathy that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK B3GALNT2 FKTN
More info about this panel Germany.
Muscular Dystrophy: Limb Girdle - autosomal recessive Panel
Germany.
By MGZ Medical Genetics Center Muscular Dystrophy: Limb Girdle - autosomal recessive that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TTN CAPN3 TRIM32 FKRP POMGNT1
More info about this panel Germany.
Dystroglycanopathies Panel
Germany.
By MGZ Medical Genetics Center Dystroglycanopathies that also includes the following genes: FKRP POMGNT1 POMT2 FKTN LARGE1 POMT1
More info about this panel Germany.
Heart Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panel Germany.
Muscle Disease with CNS Involvement Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with CNS Involvement that also includes the following genes: SNAP25 TTN RXYLT1 CCDC78 MICU1 B4GAT1 SYNE1 FKRP POMGNT1 CHKB
More info about this panel Germany.
Newborn: “Floppy Infant “ Panel
Germany.
By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel Germany.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the POMGNT1 gene.
More info about this panel Germany.
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the POMGNT1 gene.
More info about this panel Germany.
Limb-girdle muscular dystrophy panel Panel
Germany.
By Centogene AG - the Rare Disease Company Limb-girdle muscular dystrophy panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Neuronal Migration Disorders Panel Panel
Germany.
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panel Germany.
Neuronal Migration Disorders Panel Panel
Germany.
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panel Germany.
Walker-Warburg Syndrome Panel Panel
Germany.
By CeGaT GmbH Walker-Warburg Syndrome Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 COL4A1 GMPPB POMGNT2 POMK DAG1
More info about this panel Germany.
Muscular Dystrophies Panel Panel
Germany.
By CeGaT GmbH Muscular Dystrophies Panel that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel Germany.
Limb-Girdle Muscular Dystrophies Panel Panel
Germany.
By CeGaT GmbH Limb-Girdle Muscular Dystrophies Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Germany.
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Limb-Girdle Muscular Dystrophy type 2 (LGMD2) that also includes the following genes: SGCA SGCD SGCG TCAP CAPN3 FKRP POMGNT1 POMT2 TRAPPC11 ANO5
More info about this panel Poland.
Limb girdle muscular dystrophy 2O Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the POMGNT1 gene.
More info about this panel Germany.
Brain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panel Estonia.
Limb-Girdle Muscular Dystrophy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Estonia.
Muscular dystrophy / dystroglycanopathy A3 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the POMGNT1 gene.
More info about this panel Austria.
Muscular dystrophy / dystroglycanopathy B3 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the POMGNT1 gene.
More info about this panel Austria.
Muscular dystrophy / dystroglycanopathy C3 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the POMGNT1 gene.
More info about this panel Austria.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
Muscular dystrophy / dystroglycanopathy A3 Panel
Slovakia.
By MedGene
This panel specifically test the POMGNT1 gene.
More info about this panel Slovakia.
Muscular dystrophy / dystroglycanopathy B3 Panel
Slovakia.
By MedGene
This panel specifically test the POMGNT1 gene.
More info about this panel Slovakia.
Muscular dystrophy / dystroglycanopathy C3 Panel
Slovakia.
By MedGene
This panel specifically test the POMGNT1 gene.
More info about this panel Slovakia.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel United States.
Invitae Dystroglycanopathy Panel Panel
United States.
By Invitae Invitae Dystroglycanopathy Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panel United States.
Invitae Comprehensive Muscular Dystrophy Panel Panel
United States.
By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6
More info about this panel United States.
Invitae Congenital Muscular Dystrophy Panel Panel
United States.
By Invitae Invitae Congenital Muscular Dystrophy Panel that also includes the following genes: TCAP RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2 COL6A3
More info about this panel United States.
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
United States.
By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panel United States.
Invitae Limb-Girdle Muscular Dystrophy Panel Panel
United States.
By Invitae Invitae Limb-Girdle Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
DYSTROPHIES, CONGENITAL MUSCULAR Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTROPHIES, CONGENITAL MUSCULAR that also includes the following genes: SELENON FKRP POMGNT1 POMT2 COL6A1 COL6A2 COL6A3 FKTN ITGA7 LAMA2
More info about this panel Spain.
LIMB-GIRDLE MUSCULAR DYSTROPHY Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LIMB-GIRDLE MUSCULAR DYSTROPHY that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Spain.
LIMB-GIRDLE MUSCULAR DYSTROPHY, A.R. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LIMB-GIRDLE MUSCULAR DYSTROPHY, A.R. that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TTN CAPN3 TRIM32 FKRP POMGNT1
More info about this panel Spain.
Congenital disorder of O-linked glycosylation (CDG) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of O-linked glycosylation (CDG) that also includes the following genes: XYLT1 B4GAT1 HES7 CHSY1 B3GALT6 FKRP POMGNT1 CHST3 POMT2 B3GLCT
More info about this panel Spain.
Walker-Warburg Syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Walker-Warburg Syndrome that also includes the following genes: FKRP POMGNT1 POMT2 FKTN ISPD LARGE1 POMT1
More info about this panel Spain.
DYSTROGLYCANOPATHY Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTROGLYCANOPATHY that also includes the following genes: B4GAT1 FKRP POMGNT1 POMT2 COL4A1 DAG1 DPM3 FKTN ISPD LARGE1
More info about this panel Spain.
Muscle-Eye-Brain (MEB) Disease: POMGNT1 Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the POMGNT1 gene.
More info about this panel United States.
Muscle-Eye-Brain (MEB) Disease: POMGNT1 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the POMGNT1 gene.
More info about this panel United States.
Congenital Muscular Dystrophy: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Deletion/Duplication Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panel United States.
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel United States.
Brain Malformations: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Sequencing Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panel United States.
Congenital Disorders of Glycosylation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3
More info about this panel United States.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Brain Malformations: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Deletion/Duplication Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panel United States.
Congenital Muscular Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Sequencing Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panel United States.
Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Muscular Dystrophies NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Muscular Dystrophies NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN MMEL1 CAPN3 DNAJB6
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Lissencephaly NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lissencephaly NGS Panel that also includes the following genes: VLDLR ACTB ACTG1 FKRP ARX POMGNT1 POMT2 TUBA1A DCX FKTN
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Neuromuscular NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Neuromuscular NGS Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel United States.
Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel that also includes the following genes: B4GAT1 FKRP POMGNT1 POMT2 POMGNT2 DAG1 DPM1 DPM3 FKTN ISPD
More info about this panel United States.
Syndromic Congenital Muscular Dystrophy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Syndromic Congenital Muscular Dystrophy NGS Panel that also includes the following genes: POMGNT1 POMT2 FKTN LARGE1 POMT1
More info about this panel United States.
POMGNT1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POMGNT1 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Panel
Spain.
By Bioarray
This panel specifically test the POMGNT1 gene.
More info about this panel Spain.
MUSCLE-EYE-BRAIN DISEASE Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the POMGNT1 gene.
More info about this panel Spain.
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2O Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the POMGNT1 gene.
More info about this panel Spain.
WALKER - WALBURG SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL WALKER - WALBURG SYNDROME NGS PANEL that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 POMGNT2 POMK DAG1 B3GALNT2 FKTN
More info about this panel Spain.
MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL that also includes the following genes: SGCA SGCB SGCD SGCG BVES TCAP MYOT TTN CAPN3 DNAJB6
More info about this panel Spain.
Limb-girdle muscular dystrophy panel Panel
Canada.
By LifeLabs Genetics Limb-girdle muscular dystrophy panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Canada.
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A3 , Sequencing POMGNT1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the POMGNT1 gene.
More info about this panel Spain.
Walker-Warburg Syndrome , Panel Massive Sequencing 13 Genes Panel
Spain.
By Reference Laboratory Genetics Walker-Warburg Syndrome , Panel Massive Sequencing 13 Genes that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMK DAG1 B3GALNT2 FKTN
More info about this panel Spain.
Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TTN CAPN3 TRIM32 FKRP POMGNT1
More info about this panel Spain.
Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes Panel
Spain.
By Reference Laboratory Genetics Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Spain.
Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SELENON FKRP POMGNT1 POMT2 COL6A1 COL6A2 COL6A3 FKTN ITGA7 LAMA2
More info about this panel Spain.
Dystroglycanopathies , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Dystroglycanopathies , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: B4GAT1 FKRP POMGNT1 POMT2 DAG1 FKTN ISPD LARGE1 POMT1
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel
Spain.
By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM
More info about this panel Spain.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6
More info about this panel Canada.
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