Retinal disorders
Gene: LRIT3
Comment on list classification: Promoted to green due to expert review, and 2 families plus an animal model that recapitulates the human phenotype.Created: 7 Jun 2016, 12:05 p.m.
Comment on list classification: This is a probable DD gene for autosomal recessive complete congenital stationary night blindness, and was rated green by an expert reviewer.Created: 2 Jun 2016, 8:41 a.m.
This gene was removed from the Manchester Genetic Retinal Degeneration Conditions panel due to technical/alignment issues.Created: 2 Jun 2016, 8:04 a.m.
Rated green by Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome panel "reported in two families by cited paper (four alleles, including three nulls). But no reports since, as far as I can tell. Mouse model is consistent with human phenotype."Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal, Phenotypes: complete congenital stationary night blindness, Publications: 23246293. Oct. 19, 2015, 11:48 a.m. Review made: Panel Version: 0
Created: 26 Apr 2016, 12:28 p.m.
Source NHS GMS was added to LRIT3. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Publications for LRIT3 were set to PMID: 23246293
This gene has been classified as Green List (High Evidence).
LRIT3 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
LRIT3 was created by ellenmcdonagh