Structural eye disease
Gene: CRB1
Zenteno: one family with nanophthalmos; Paun one family with nanophthalmos: both biallelicCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 8; Retinitis pigmentosa-12, autosomal recessive; Pigmented paravenous chorioretinal atrophy; 613835; 600105
Publications
Promoted from red to amber based on the expert review provided.Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Zenteno: one family with nanophthalmos; Paun one family with nanophthalmos: both biallelicCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105; Pigmented paravenous chorioretinal atrophy
Publications
Source Expert Review Amber was added to CRB1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source NHS GMS was added to CRB1. Mode of inheritance for gene CRB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105; Pigmented paravenous chorioretinal atrophy; Leber congenital amaurosis 8, 613835 for gene: CRB1 Publications for gene CRB1 were changed from to 23077403; 21484995
gene: CRB1 was added gene: CRB1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CRB1 was set to Phenotypes for gene: CRB1 were set to Eye Disorders