Bilateral congenital or childhood onset cataracts
Gene: NDP
NDP (NDP, norrin cystine knot growth factor)
EnsemblGeneIds (GRCh38): ENSG00000124479
EnsemblGeneIds (GRCh37): ENSG00000124479
OMIM: 300658, Gene2Phenotype
NDP is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000124479
EnsemblGeneIds (GRCh37): ENSG00000124479
OMIM: 300658, Gene2Phenotype
NDP is in 9 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Norrie Disease
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Gene and phenotype added from the Manchester congenital cataracts gene panel. This is a confirmed DD gene for Norrie disease, and there are multiple cases reported in OMIM. Mode of inheritance sourced from OMIM.
Created: 29 Apr 2016, 3:16 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Norrie Disease
- OMIM
- 300658
- Clinvar variants
- Variants in NDP
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
14 Jun 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).
13 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).
29 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NDP was added to Cataractspanel. Sources: Expert list
29 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NDP was created by ellenmcdonagh