Glaucoma (developmental)

Gene: RPGR

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease

Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic; Cone-rod dystrophy, X-linked, 1 ; 300029; 300455; 300834; 304020

Mode of pathogenicity
Other - please provide details in the comments

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease

Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Retinitis pigmentosa 3, 300029; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020

Mode of pathogenicity
Other - please provide details in the comments