SGCG gene related symptoms and diseases
All the information presented here about the SGCG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SGCG gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Neck flexor weakness | Very Common - Between 80% and 100% cases |
Calf muscle hypertrophy | Very Common - Between 80% and 100% cases |
Restrictive ventilatory defect | Very Common - Between 80% and 100% cases |
Difficulty climbing stairs | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SGCG gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Difficulty running
- Progressive proximal muscle weakness
- Right ventricular hypertrophy
- Upper limb muscle weakness
- Achilles tendon contracture
- Left ventricular failure
- Restrictive deficit on pulmonary function testing
- Muscle fiber atrophy
And 40 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SGCG gene
Here you will find a list of rare diseases related to the SGCG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C
Alternate names
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type, dmda, lgmd2c, muscular dystrophy, limb-girdle, type 2c, limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency, duchenne-like muscular dystrophy, autosomal recessive, type
Description
Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C
- Intellectual disability
- Scoliosis
- Muscle weakness
- Flexion contracture
- Skeletal muscle atrophy
More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C
Search interest in SGCG
Potential gene panels for SGCG gene
GeneAware Complete Panel Version 2 (Female) Panel
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 panelGeneAware Complete Panel Version 2 (Male) Panel
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 panelSGCG Duplication/Deletion Test Panel
By Athena Diagnostics Inc
This panel specifically test the SGCG gene.
More info about this panelLimb Girdle Muscular Dystrophy Advanced Evaluation Panel
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 panelMuscular Dystrophy Advanced Evaluation Panel
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 panelNeuromuscular Disorders Panel Panel
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 panelComprehensive Neuromuscular Panel Panel
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 panelLimb-Girdle Muscular Dystrophy Panel
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 panelNeuromuscular Disorders Sequencing Panel Panel
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 panelLimb-Girdle Muscular Dystrophy Sequencing Panel Panel
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 panelLimb-Girdle Muscular Dystrophy Deletion/Duplication Panel Panel
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 panelMuscular dystrophy, limb-girdle, type 2C Panel
By Human Genetics University Hospital Bern
This panel specifically test the SGCG gene.
More info about this panelCardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCA SGCB SGCD SGCG
More info about this panelSGCG. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SGCG gene.
More info about this panelLimb-girdle muscular dystrophy type 2C (LGMD2C, p.Cys283Tyr mutation on SGCG gene) Panel
By CGC Genetics
This panel specifically test the SGCG gene.
More info about this panelSarcoglycanopathies (NGS panel for 5 genes) Panel
By CGC Genetics Sarcoglycanopathies (NGS panel for 5 genes) that also includes the following genes: SGCA SGCB SGCD SGCE SGCG
More info about this panelLimb-girdle muscular dystrophies (NGS panel for 26 genes) Panel
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 panelLimb-girdle muscular dystrophy type 2C (LGMD2C, sequence analysis of SGCG gene) Panel
By CGC Genetics
This panel specifically test the SGCG gene.
More info about this panelLimb-girdle muscular dystrophy (deletions/duplications of SGCA, SGCB, SGCD, SGCG and FKRP genes) Panel
By CGC Genetics Limb-girdle muscular dystrophy (deletions/duplications of SGCA, SGCB, SGCD, SGCG and FKRP genes) that also includes the following genes: SGCA SGCB SGCD SGCG FKRP
More info about this panelLimb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel
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 panelComprehensive Cardiology Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panelPan Cardiomyopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3
More info about this panelLimb Girdle Muscular Dystrophy, Type 2C (LGMD2C) via SGCG Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SGCG gene.
More info about this panelComprehensive Neuromuscular Sequencing Panel Panel
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 panelLimb girdle muscular dystrophy Comprehensive panel Panel
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 panelLimb girdle muscular dystrophy Deletion / Duplication panel Panel
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 panelLimb girdle muscular dystrophy NGS panel Panel
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 panelSGCG Panel
By MGZ Medical Genetics Center
This panel specifically test the SGCG gene.
More info about this panelMuscular Dystrophy: Limb Girdle - autosomal recessive Panel
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 panelHeart Diseases - panels Panel
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 panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
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 panelMuscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
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 panelLimb Girdle Muscular Dystrophy Autosomal Recessive Panel Panel
By FirmaLab Limb Girdle Muscular Dystrophy Autosomal Recessive Panel that also includes the following genes: SGCA SGCB SGCE SGCG TCAP TTN CAPN3 TRIM32 FKRP ANO5
More info about this panelLimb-girdle muscular dystrophy, autosomal recessive type 2C Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SGCG gene.
More info about this panelLimb-girdle muscular dystrophy panel Panel
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 panelAllNeuro panel Panel
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 panelLimb-Girdle Muscular Dystrophies Panel Panel
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 panelLimb-Girdle Muscular Dystrophy type 2 (LGMD2) Panel
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 panelLimb girdle muscular dystrophy 2C Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SGCG gene.
More info about this panelLimb girdle muscular dystrophy-Panel Panel
By MVZ Dortmund Dr. Eberhard & Partner Limb girdle muscular dystrophy-Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT CAPN3 DNAJB6 CAV3 TRIM32
More info about this panelSGCG Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SGCG gene.
More info about this panelLimb-Girdle Muscular Dystrophy Panel
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 panelMuscular dystrophy, limb-girdle 2C Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the SGCG gene.
More info about this panelSGCG Gene Sequencing Panel
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the SGCG gene.
More info about this panelMuscular dystrophy, limb-girdle 2C Panel
By MedGene
This panel specifically test the SGCG gene.
More info about this panelInvitae Comprehensive Neuromuscular Disorders Panel Panel
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 panelInvitae Comprehensive Muscular Dystrophy Panel Panel
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 panelInvitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
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 panelInvitae Limb-Girdle Muscular Dystrophy Panel Panel
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 panelLIMB-GIRDLE MUSCULAR DYSTROPHY Panel
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 panelLIMB-GIRDLE MUSCULAR DYSTROPHY, A.R. Panel
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 panelLimb-Girdle Muscular Dystrophy Type 2C: SGCG Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SGCG gene.
More info about this panelLimb-Girdle Muscular Dystrophy Type 2C: SGCG Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SGCG gene.
More info about this panelSarcoglycanopathy Panel: SGCG, SGCA, SGCB, and SGCD Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Sarcoglycanopathy Panel: SGCG, SGCA, SGCB, and SGCD Full Gene Sequencing that also includes the following genes: SGCA SGCB SGCD SGCG
More info about this panelSarcoglycanopathy Panel: SGCG, SGCA, SGCB, and SGCD Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Sarcoglycanopathy Panel: SGCG, SGCA, SGCB, and SGCD Gene Deletion/Duplication that also includes the following genes: SGCA SGCB SGCD SGCG
More info about this panelNeuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
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 panelExpanded Neuromuscular Disorders: Sequencing Panel Panel
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 panelLimb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel
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 panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
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 panelExpanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
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 panelMuscular Dystrophies NGS Panel Panel
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 panelNeuromuscular NGS Panel Panel
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 panelLimb-Girdle Muscular Dystrophy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics 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 panelSGCG Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SGCG gene.
More info about this panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelLGMD and Congenital Muscular Dystrophy Panel Panel
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelAutosomal recessive limb-girdle muscular dystrophy type 2C Panel
By Bioarray
This panel specifically test the SGCG gene.
More info about this panelMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C (AUT. REC.) (GAMMA-SARCOGLIYCAN DEF.) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the SGCG gene.
More info about this panelMUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL Panel
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 panelLimb-girdle muscular dystrophy panel Panel
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 panelLimb-Girdle Muscular Dystrophy Type 2C, Sequencing SGCG Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SGCG gene.
More info about this panelAutosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes Panel
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 panelLimb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes Panel
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 panelMuscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
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 panelSarcoglycanopathies , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Sarcoglycanopathies , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SGCA SGCB SGCD SGCE SGCG
More info about this panelPan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
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
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