Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cataracts

Gene: NDP

Green List (high evidence)

NDP (NDP, norrin cystine knot growth factor)
EnsemblGeneIds (GRCh38): ENSG00000124479
EnsemblGeneIds (GRCh37): ENSG00000124479
OMIM: 300658, Gene2Phenotype
NDP is in 10 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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)

Green List (high evidence)

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