Genes in panel

Hereditary neuropathy

Gene: GDAP1

Green List (high evidence)

GDAP1 (ganglioside induced differentiation associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104381
EnsemblGeneIds (GRCh37): ENSG00000104381
OMIM: 606598, Gene2Phenotype
GDAP1 is in 8 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

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 dominant
Created: 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)

I don't know

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)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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, 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, 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
OMIM
606598
Clinvar variants
Variants in GDAP1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

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

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to GDAP1.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GDAP1.

29 Apr 2019, Gel status: 3

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)

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 4

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

20 Jul 2015, Gel status: 4

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

20 Jul 2015, Gel status: 4

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

20 Jul 2015, Gel status: 4

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

20 Jul 2015, Gel status: 4

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

20 Jul 2015, Gel status: 4

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

20 Jul 2015, Gel status: 4

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

20 Jul 2015, Gel status: 3

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

20 Jul 2015, Gel status: 3

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

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 1

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