Research panel - Severe Paediatric Disorders
Gene: GDAP1

GDAP1 (ganglioside induced differentiation associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104381
EnsemblGeneIds (GRCh37): ENSG00000104381
OMIM: 606598, Gene2Phenotype
GDAP1 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GDAP1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3) | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3) | Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) | Charcot-Marie-Tooth disease, type 4A, 214400 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

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

None

Publications

30847515

Panels with this gene

History Filter Activity

5 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706; Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, type 4A, 214400; 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

21 Feb 2020, Gel status: 3