Retinal disorders
Gene: CEP290
Note that intronic variant NM_025114.3(CEP290):c.2991+1655A>G should be included in analysis.Created: 18 Jul 2019, 9:01 a.m. | Last Modified: 18 Jul 2019, 9:01 a.m.
Panel Version: 1.145
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEBER CONGENITAL AMAUROSIS 10; LCA10
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome type 5 (JBTS5); Senior-Loken syndrome type 6 (SLSN6); Leber congenital amaurosis type 10 (LCA10); Meckel syndrome type 4 (MKS4); Bardet-Biedl syndrome type 14 (BBS14)
Variants in this GENE are reported as part of current diagnostic practice
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, 8:04 a.m.
Publications for gene: CEP290 were set to
Source NHS GMS was added to CEP290. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
CEP290 was created by ellenmcdonagh
CEP290 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green