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.

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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

SOURCES: MESH OMIM ORPHANET

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

SOURCES: ORPHANET OMIM

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. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

Most common symptoms of LISSENCEPHALY 1; LIS1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about LISSENCEPHALY 1; LIS1

SOURCES: ORPHANET OMIM


Potential gene panels for PAFAH1B1 gene

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

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

Syndromic Autism Panel Panel

United States.

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 panel

NGS Epilepsy/Seizure Panel Panel

United States.

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 panel

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

Epilepsy/Seizure Panel

United States.

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 panel

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

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

LIS1 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the PAFAH1B1 gene.

More info about this panel

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

LIS1 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Classic Lissencephaly Panel Panel

United States.

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 panel

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

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

Miller-Dieker syndrome Panel

United States.

By Cytogenetics Laboratory SUNY Upstate Medical University

This panel specifically test the PAFAH1B1 gene.

More info about this panel

LIS1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PAFAH1B1 gene.

More info about this panel

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

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

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

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

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 panel

PAFAH1B1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PAFAH1B1 gene.

More info about this panel

PAFAH1B1. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Lissencephaly 1 (LIS1, sequence analysis of PAFAH1B1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Lissencephaly 1 (deletion/duplication analysis of PAFAH1B1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Portugal.

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 panel

Lissencephaly (NGS panel for 12 genes) Panel

Portugal.

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 panel

Lissencephaly 1 and Subcortical Band Heteropia via PAFAH1B1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PAFAH1B1 gene.

More info about this panel

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

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

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

Lissencephaly core Deletion / Duplication test Panel

United States.

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 panel

Lissencephaly core Comprehensive test Panel

United States.

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 panel

Lissencephaly core NGS test Panel

United States.

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 panel

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

Lissencephaly Panel

Germany.

By MGZ Medical Genetics Center Lissencephaly that also includes the following genes: TUBG1 TUBA1A DCX TUBB2B KIF2A PAFAH1B1 RELN

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

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 panel

Microcephaly panel Panel

Germany.

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 panel

Lissencephaly panel Panel

Germany.

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 panel

Lissencephaly type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PAFAH1B1 gene.

More info about this panel

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

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

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

Single gene testing PAFAH1B1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Test for LIS1-Associated Lissencephaly/Subcortical Band Heterotopia Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Microcephaly Panel

Estonia.

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 panel

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

Lissencephaly 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAFAH1B1 gene.

More info about this panel

LIS1 Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the PAFAH1B1 gene.

More info about this panel

qChip Panel

Spain.

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 panel

Lissencephaly 1 Panel

Slovakia.

By MedGene

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Lissencephaly: PAFAH1B1 (LIS1) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Lissencephaly: PAFAH1B1 (LIS1), DCX, POMT1, POMGnT1 and FLNA genes deletions-duplications analysis (MLPA) Panel

Spain.

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 panel

LISSENCEPHALY Panel

Spain.

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 panel

PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia: PAFAH1B1 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the PAFAH1B1 gene.

More info about this panel

PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia: PAFAH1B1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

United States.

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 panel

Autism Spectrum Disorders: Tier 2 Panel Panel

United States.

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

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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

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

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

United States.

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 panel

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

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

United States.

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 panel

Autism NGS Panel Panel

United States.

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 panel

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

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

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

Microcephaly NGS Panel Panel

United States.

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 panel

PAFAH1B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PAFAH1B1 gene.

More info about this panel

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

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Finland.

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 panel

Lissencephaly Panel Panel

Finland.

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 panel

Neuronal Migration Disorder Panel Panel

Finland.

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 panel

Lissencephaly type 1 Panel

Spain.

By Bioarray

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

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

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High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

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

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LISSENCEPHALY Panel

Spain.

By Laboratorio de Genetica Clinica SL LISSENCEPHALY that also includes the following genes: TUBA1A PAFAH1B1

More info about this panel

Isolated Lissencephaly, Sequencing PAFAH1B1 (LIS1) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PAFAH1B1 gene.

More info about this panel

Lissencephaly, Deletions-Duplication (MLPA) (PAFAH1B1 and DCX)Genes Panel

Spain.

By Reference Laboratory Genetics Lissencephaly, Deletions-Duplication (MLPA) (PAFAH1B1 and DCX)Genes that also includes the following genes: DCX PAFAH1B1

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Lissencephaly, Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Lissencephaly, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: NDE1 ARX TUBA1A DCX PAFAH1B1 RELN

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Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

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

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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

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