This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: NDRG1
NDRG1 (N-myc downstream regulated 1)
EnsemblGeneIds (GRCh38): ENSG00000104419
EnsemblGeneIds (GRCh37): ENSG00000104419
OMIM: 605262, Gene2Phenotype
NDRG1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000104419
EnsemblGeneIds (GRCh37): ENSG00000104419
OMIM: 605262, Gene2Phenotype
NDRG1 is in 3 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed rating from Amber to Red. Variants of NDRG1 result in Charcot-Marie-Tooth disease, type 4D that is predominantly associated to a movement disorder with no intellectual disability associationCreated: 27 Feb 2018, 12:03 p.m.
Comment on phenotypes: added phenotype from OMIMCreated: 27 Feb 2018, 11:52 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- Phenotypes
-
- Charcot-Marie-Tooth disease, type 4D, 601455
- OMIM
- 605262
- Clinvar variants
- Variants in NDRG1
- Penetrance
- None
- Panels with this gene
History Filter Activity
27 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Feb 2018, Gel status: 2
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for NDRG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
27 Feb 2018, Gel status: 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)NDRG1 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)NDRG1 was created by Ellen McDonagh