PAFAH1B1 gene related symptoms and diseases
All the information presented here about the PAFAH1B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PAFAH1B1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Common - Between 50% and 80% cases |
Microcephaly | Common - Between 50% and 80% cases |
Lissencephaly | Common - Between 50% and 80% cases |
Hypoplasia of the corpus callosum | Common - Between 50% and 80% cases |
Ventriculomegaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PAFAH1B1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Seizures
- Pachygyria
- Heterotopia
- High forehead
- Global developmental delay
- Clinodactyly of the 5th finger
- Inguinal hernia
- Short nose
And 202 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PAFAH1B1 gene
Here you will find a list of rare diseases related to the PAFAH1B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
17P13.3 MICRODUPLICATION SYNDROME
Alternate names
17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome, dup(17)(p13.3), trisomy 17p13.3
Description
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
Most common symptoms of 17P13.3 MICRODUPLICATION SYNDROME
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Growth delay
More info about 17P13.3 MICRODUPLICATION SYNDROME
MILLER-DIEKER SYNDROME
Alternate names
MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3, lissencephaly due to 17p13.3 deletion, mds, telomeric deletion 17p
Description
Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.
Most common symptoms of MILLER-DIEKER SYNDROME
- Intellectual disability
- Seizures
- Microcephaly
- Ataxia
- Growth delay
More info about MILLER-DIEKER SYNDROME
SMITH-MAGENIS SYNDROME; SMS
Alternate names
SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome
Most common symptoms of SMITH-MAGENIS SYNDROME; SMS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about SMITH-MAGENIS SYNDROME; SMS
SOURCES: OMIM
SUBCORTICAL BAND HETEROTOPIA
Alternate names
SUBCORTICAL BAND HETEROTOPIA Is also known as subcortical laminar heterotopia
More info about SUBCORTICAL BAND HETEROTOPIA
SOURCES: ORPHANET
LISSENCEPHALY DUE TO LIS1 MUTATION
Alternate names
LISSENCEPHALY DUE TO LIS1 MUTATION Is also known as pafah1b1-related lissencephaly
Description
Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.
More info about LISSENCEPHALY DUE TO LIS1 MUTATION
SOURCES: ORPHANET
LISSENCEPHALY 1; LIS1
Alternate names
LISSENCEPHALY 1; LIS1 Is also known as lissencephaly, classic, ils, lissencephaly sequence, isolated
Description
Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX.
Most common symptoms of LISSENCEPHALY 1; LIS1
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about LISSENCEPHALY 1; LIS1
Search interest in PAFAH1B1
Potential gene panels for PAFAH1B1 gene
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel
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 panelEpilepsy Advanced Sequencing and CNV Evaluation Panel
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 panelSyndromic Autism Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1
More info about this panelNGS Epilepsy/Seizure Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panelComprehensive Brain Malformation Panel Panel
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 panelEpilepsy/Seizure Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panelCerebral Cortical Deletion/Duplication Panel Panel
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 panelCerebral Cortical Malformation Sequencing Panel Panel
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 panelLIS1 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the PAFAH1B1 gene.
More info about this panelLissencephaly Sequencing Panel Panel
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 panelLIS1 deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the PAFAH1B1 gene.
More info about this panelClassic Lissencephaly Panel Panel
By Genetic Services Laboratory University of Chicago Classic Lissencephaly Panel that also includes the following genes: VLDLR ACTB ACTG1 ARX TUBA1A DCX PAFAH1B1 RELN
More info about this panelComprehensive Lissencephaly Panel Panel
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 panelCerebral Cortical Malformations Deletion/Duplication Panel Panel
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 panelMiller-Dieker syndrome Panel
By Cytogenetics Laboratory SUNY Upstate Medical University
This panel specifically test the PAFAH1B1 gene.
More info about this panelLIS1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PAFAH1B1 gene.
More info about this panelComprehensive Brain Malformations Panel Panel
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 panelCortical Brain Malformations Panel Panel
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 panelLissencephaly Panel Panel
By GeneDx Lissencephaly Panel that also includes the following genes: VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 FKRP ARX ATP6V0A2 POMGNT1
More info about this panelAutism/Intellectual Disability/Multiple Anomalies Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1
More info about this panelPAFAH1B1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PAFAH1B1 gene.
More info about this panelPAFAH1B1. MLPA testing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PAFAH1B1 gene.
More info about this panelLissencephaly 1 (LIS1, sequence analysis of PAFAH1B1 gene) Panel
By CGC Genetics
This panel specifically test the PAFAH1B1 gene.
More info about this panelLissencephaly 1 (deletion/duplication analysis of PAFAH1B1 gene) Panel
By CGC Genetics
This panel specifically test the PAFAH1B1 gene.
More info about this panelMicrocephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panelLissencephaly (NGS panel for 12 genes) Panel
By CGC Genetics Lissencephaly (NGS panel for 12 genes) that also includes the following genes: YWHAE NDE1 CDK5 ARX POMT2 TUBA1A DCX KATNB1 LAMB1 PAFAH1B1
More info about this panelLissencephaly 1 and Subcortical Band Heteropia via PAFAH1B1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PAFAH1B1 gene.
More info about this panelLissencephaly and related disorders NGS test Panel
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 panelLissencephaly and related disorders Deletion / Duplication test Panel
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 panelLissencephaly and related disorders Comprehensive test Panel
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 panelLissencephaly core Deletion / Duplication test Panel
By Connective Tissue Gene Tests Lissencephaly core Deletion / Duplication test that also includes the following genes: NDE1 CDK5 ARX TUBA1A TMTC3 DCX KATNB1 LAMB1 PAFAH1B1 RELN
More info about this panelLissencephaly core Comprehensive test Panel
By Connective Tissue Gene Tests Lissencephaly core Comprehensive test that also includes the following genes: NDE1 CDK5 ARX TUBA1A TMTC3 DCX KATNB1 LAMB1 PAFAH1B1 RELN
More info about this panelLissencephaly core NGS test Panel
By Connective Tissue Gene Tests Lissencephaly core NGS test that also includes the following genes: NDE1 CDK5 ARX TUBA1A TMTC3 DCX KATNB1 LAMB1 PAFAH1B1 RELN
More info about this panelMental retardation - different panels Panel
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 panelLissencephaly Panel
By MGZ Medical Genetics Center Lissencephaly that also includes the following genes: TUBG1 TUBA1A DCX TUBB2B KIF2A PAFAH1B1 RELN
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelMicrocephaly panel Panel
By Centogene AG - the Rare Disease Company Microcephaly panel that also includes the following genes: MSMO1 STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2
More info about this panelLissencephaly panel Panel
By Centogene AG - the Rare Disease Company Lissencephaly panel that also includes the following genes: YWHAE NDE1 ARX TUBA1A DCX PAFAH1B1 RELN
More info about this panelLissencephaly type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PAFAH1B1 gene.
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 panelNeuronal Migration Disorders Panel Panel
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 panelNeuronal Migration Disorders Panel Panel
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 panelSingle gene testing PAFAH1B1 Panel
By CeGaT GmbH
This panel specifically test the PAFAH1B1 gene.
More info about this panelTest for LIS1-Associated Lissencephaly/Subcortical Band Heterotopia Panel
By All Wales Genetics Laboratory Institute of Medical Genetics
This panel specifically test the PAFAH1B1 gene.
More info about this panelMicrocephaly Panel
By Asper Biogene Asper Biogene LLC Microcephaly that also includes the following genes: STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2 ASPM
More info about this panelBrain malformations Panel
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 panelLissencephaly 1 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAFAH1B1 gene.
More info about this panelLIS1 Gene Sequencing Panel
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the PAFAH1B1 gene.
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelLissencephaly 1 Panel
By MedGene
This panel specifically test the PAFAH1B1 gene.
More info about this panelLissencephaly: PAFAH1B1 (LIS1) gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PAFAH1B1 gene.
More info about this panelLissencephaly: PAFAH1B1 (LIS1), DCX, POMT1, POMGnT1 and FLNA genes deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Lissencephaly: PAFAH1B1 (LIS1), DCX, POMT1, POMGnT1 and FLNA genes deletions-duplications analysis (MLPA) that also includes the following genes: DCX PAFAH1B1
More info about this panelLISSENCEPHALY Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LISSENCEPHALY that also includes the following genes: YWHAE NDE1 ARX TUBA1A DCX PAFAH1B1 RELN
More info about this panelPAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia: PAFAH1B1 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PAFAH1B1 gene.
More info about this panelPAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia: PAFAH1B1 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PAFAH1B1 gene.
More info about this panelEpilepsy and Seizure Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panelAutism Spectrum Disorders: Tier 2 Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panelBrain Malformations: Sequencing Panel Panel
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 panelNeurology: Sequencing Panel Panel
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 panelAutism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panelBrain Malformations: Deletion/Duplication Panel Panel
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 panelEpilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panelAutism NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panelEpilepsy NGS Panel Panel
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 panelLissencephaly NGS Panel Panel
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 panelIntellectual Disability NGS Panel Panel
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 panelMicrocephaly NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1
More info about this panelPAFAH1B1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PAFAH1B1 gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
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 panelMicrocephaly and Pontocerebellar Hypoplasia Panel Panel
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panelLissencephaly Panel Panel
By Blueprint Genetics Lissencephaly Panel that also includes the following genes: TUBG1 VLDLR YWHAE ACTB ACTG1 ARX ATP6V0A2 TUBA1A POMGNT2 DCX
More info about this panelNeuronal Migration Disorder Panel Panel
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panelLissencephaly type 1 Panel
By Bioarray
This panel specifically test the PAFAH1B1 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelLISSENCEPHALY Panel
By Laboratorio de Genetica Clinica SL LISSENCEPHALY that also includes the following genes: TUBA1A PAFAH1B1
More info about this panelIsolated Lissencephaly, Sequencing PAFAH1B1 (LIS1) Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PAFAH1B1 gene.
More info about this panelLissencephaly, Deletions-Duplication (MLPA) (PAFAH1B1 and DCX)Genes Panel
By Reference Laboratory Genetics Lissencephaly, Deletions-Duplication (MLPA) (PAFAH1B1 and DCX)Genes that also includes the following genes: DCX PAFAH1B1
More info about this panelLissencephaly, Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Lissencephaly, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: NDE1 ARX TUBA1A DCX PAFAH1B1 RELN
More info about this panelAutism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel
By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panelMalformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel
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
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