Retinal disordersGene: KIAA1549
de Bruijn 2018
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. KIAA1549 is not associated with a phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with RP who have variants in this gene. Therefore, there is enough evidence to promote this gene to green status.
Created: 2 Apr 2019, 2:51 p.m.
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:06 a.m.
Two publications of a possible association with retinal dystrophy - however causal link not proven.
Created: 1 Jun 2016, 10:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: KIAA1549 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source NHS GMS was added to KIAA1549. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: kiaa1549 has been classified as Green List (High Evidence).
Publications for gene: KIAA1549 were set to 23105016; 24938718
Publications for gene: KIAA1549 were set to
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
KIAA1549 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
KIAA1549 was created by ellenmcdonagh