Structural eye disease
Gene: LRP2
Kantarci: two cases with coloboma, another case by Kantarci and RaggeCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome, 222448
Publications
Promoted from amber to green as there is sufficient evidence.Created: 24 Apr 2019, 2:37 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Kantarci: two cases with coloboma, another case by Kantarci and RaggeCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome, 222448
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to LRP2. Source Expert Review Green was added to LRP2. Added phenotypes Donnai-Barrow syndrome, 222448 for gene: LRP2 Publications for gene LRP2 were changed from 17632512, 8266995 to 8266995; 18553518; 17632512 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: LRP2 was added gene: LRP2 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP2 were set to 17632512, 8266995 Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448