Retinal disorders
Gene: UNC119The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:43 a.m. | Last Modified: 8 Mar 2022, 10:43 a.m.
Panel Version: 2.245
Comment on list classification: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM. Based on the available evidence there are 2 independent cases with an animal model, therefore there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 17 Feb 2021, 4:25 p.m. | Last Modified: 17 Feb 2021, 4:25 p.m.
Panel Version: 2.168
Two families reported with cone-rod dystrophy, and a supporting mouse and zebrafish model with retinal degeneration.Created: 15 Oct 2020, 9:15 a.m. | Last Modified: 15 Oct 2020, 9:15 a.m.
Panel Version: 2.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cone-rod dystrophy
Publications
unlikely that het LOF is causativeCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Two published incidences - but only one convincing (with functional studies in model organism) - on this basis (a single confirmed incidence) I am not sure that this warrants inclusion in the panel.Created: 1 Jun 2016, 11:28 a.m.
Phenotypes
Cone rod dystrophy
Publications
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, 8:06 a.m.
Comment on list classification: One family study reported in OMIM for cone-rod dystrophy.Created: 23 Mar 2016, 2:07 p.m.
Tag Q2_21_rating was removed from gene: UNC119.
Source Expert Review Green was added to UNC119. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: unc119 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: UNC119.
Publications for gene: UNC119 were set to
Source NHS GMS was added to UNC119.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Model of inheritance for gene UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
UNC119 was created by ellenmcdonagh
UNC119 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green