Hereditary neuropathy
Gene: GDAP1EnsemblGeneIds (GRCh38): ENSG00000104381
EnsemblGeneIds (GRCh37): ENSG00000104381
OMIM: 606598, Gene2Phenotype
GDAP1 is in 10 panels
8 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
Multiple C5s in Bristol. Also well established from looking at HGMD - mixed phenotypes. PMID:11743579 - original paper mapping gene. PMID: 2937239 - recent paper with 3 families showing autosomal recessive inheritance and one with autosomal dominantCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot-Marie-Tooth, Intermediate (Dominant); Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot Marie Tooth disease, recessive intermediate, A, 608340
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Variants in this GENE are reported as part of current diagnostic practice
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
PMID: 28379183 - a heterozygous variant reported in a CMT patient. Incomplete penetrance suggested, as the father who was also heterozygous for the variant was clinically asymptomatic but her paternal aunt (affected) was also heterozygous for the variant. The variant was not detected in the mother.Created: 14 Aug 2017, 2:50 p.m.
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:04 p.m.
Is on the Charcot-Marie- Tooth disease type 1 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 12:57 p.m.
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831
- Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706
- Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340
- Charcot-Marie-Tooth disease, type 4A, OMIM:214400
- OMIM
- 606598
- Clinvar variants
- Variants in GDAP1
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary neuropathy
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Arthrogryposis
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: GDAP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GDAP1 were changed from Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot Marie Tooth disease, type 4A, 214400; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, recessive intermediate, A, 608340; Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot Marie Tooth disease, recessive intermediate, A, 608340 to Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706; Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340; Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Charcot Marie Tooth disease, type 4A, 214400; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth with Vocal Cord Paresis (recessive); Charcot Marie Tooth disease, axonal, type 2K, 607831; Charcot Marie Tooth disease, recessive intermediate, A, 608340 for gene: GDAP1 Publications for gene GDAP1 were changed from to 11743579; 2937239
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to GDAP1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GDAP1.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to GDAP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GDAP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GDAP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GDAP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GDAP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GDAP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GDAP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GDAP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GDAP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GDAP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GDAP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GDAP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GDAP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GDAP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)GDAP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory