Structural eye disease
Gene: ERCC1
Jaspers: one case with microphthalmiaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia); 610758
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). Jaspers: one case with microphthalmiaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758
Publications
Source Expert Review Amber was added to ERCC1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source NHS GMS was added to ERCC1. Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758 for gene: ERCC1 Publications for gene ERCC1 were changed from to 17273966
gene: ERCC1 was added gene: ERCC1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC1 was set to Phenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4, 610758