Retinal disorders
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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Eye Disorders
- OMIM
- 300658
- Clinvar variants
- Variants in NDP
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to NDP. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 Mar 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).
22 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NDP was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NDP was created by ellenmcdonagh
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NDP was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green