Structural eye disease
Gene: NDP
Deml one family, hemizygous missense present in two affected brothers. Hinds coloboma in case with microdeletion; Jia reported microdeletion case with microphthalmia and corneal opacifications. Lev one case with corneal opacities, probably more Norrie disease cases with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Exudative vitreoretinopathy 2, X-linked; Norrie disease; 305390; 310600
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Deml one family, hemizygous missense present in two affected brothers. Hinds coloboma in case with microdeletion; Jia reported microdeletion case with microphthalmia and corneal opacifications. Lev one case with corneal opacities, probably more Norrie disease cases with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Exudative vitreoretinopathy 2, X-linked, 305390; Norrie disease, 310600
Publications
Mode of pathogenicity
Other - please provide details in the comments
Source NHS GMS was added to NDP. Source Expert Review Green was added to NDP. Mode of inheritance for gene NDP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP Publications for gene NDP were changed from to 17334993; 26130484; 29321361; 29617172 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: NDP was added gene: NDP was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NDP was set to Phenotypes for gene: NDP were set to Eye Disorders