Structural eye disease
Gene: AIPL1
Yucel-Yilmaz: one family with microphthalmia, otherwise many cases with Leber's Congenital AmaurosisCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy; Leber congenital amaurosis 4; Retinitis pigmentosa, juvenile; 604393; 604393; 604393
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). Yucel-Yilmaz: one family with microphthalmia, otherwise many cases with Leber's Congenital AmaurosisCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to AIPL1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source NHS GMS was added to AIPL1. Mode of inheritance for gene AIPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy; Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4, 604393 for gene: AIPL1 Publications for gene AIPL1 were changed from to 25148430
gene: AIPL1 was added gene: AIPL1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: AIPL1 was set to Phenotypes for gene: AIPL1 were set to Eye Disorders