Glaucoma (developmental)
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
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
NDP was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory