Structural eye disease
Gene: INPP5E
Travaglini: 3 families with coloboma; Brooks one family; Luo: zebrafish modelCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis; 213300; 610156
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Travaglini: 3 families with coloboma; Brooks one family; Luo: zebrafish modelCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156
Publications
Source NHS GMS was added to INPP5E. Source Expert Review Green was added to INPP5E. Added phenotypes Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 for gene: INPP5E Publications for gene INPP5E were changed from 23386033; 26748598 to 30055837; 23386033; 23022135 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: INPP5E was added gene: INPP5E was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 23386033; 26748598 Phenotypes for gene: INPP5E were set to Joubert syndrome