Retinal disordersGene: LRP2
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Comment on list classification: Promoted from red to green. LRP2 is associated with a Donnai-Barrow syndrome in OMIM and Gene2Phenotype. Retinal dystrophy is listed as one of the phenotypes in Gene2Phenotype for this gene. There are also >3 unrelated cases of patients with Donnai-Barrow syndrome. Therefore, there is sufficient evidence to promote this gene to green status.
Created: 3 Apr 2019, 10:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to LRP2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: lrp2 has been classified as Green List (High Evidence).
Publications for gene: LRP2 were set to
Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome 222448
This gene has been classified as Red List (Low Evidence).
LRP2 was added to Posterior segment abnormalitiespanel. Sources: BRIDGE consortium (NIHRBR-RD)
LRP2 was created by BRIDGE