This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: GDAP1
GDAP1 (ganglioside induced differentiation associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104381
EnsemblGeneIds (GRCh37): ENSG00000104381
OMIM: 606598, Gene2Phenotype
GDAP1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000104381
EnsemblGeneIds (GRCh37): ENSG00000104381
OMIM: 606598, Gene2Phenotype
GDAP1 is in 10 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Associated with Charcot-Marie-Tooth disease in OMIM but no evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.Created: 20 Feb 2018, 3:27 p.m.
Details
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- OMIM
- 606598
- Clinvar variants
- Variants in GDAP1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Fetal anomalies
- Hereditary neuropathy
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
History Filter Activity
20 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)GDAP1 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)GDAP1 was created by Ellen McDonagh