Retinal disorders
Gene: UBAP1L
Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases with four different UBAP1L variants reported with either Rod-cone dystrophy, cone-rod dystrophy or retinitis pigmentosa. Hence, this gene should be promoted to green rating in the next GMS review.Created: 5 Feb 2024, 7:55 p.m. | Last Modified: 5 Feb 2024, 7:55 p.m.
Panel Version: 4.63
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rod-cone dystrophy, HP:0000510; cone-rod dystrophy, MONDO:0015993; retinitis pigmentosa, MONDO:0019200
PMID: 38293907 reports three distinct pathogenic variants in UBAP1L in four independent autosomal recessive IRD cases from Tunisia - can only see abstract at present
PMID: 28041643 had previously identified a homozygous splice site variant in an RP patient (c.121−2A>C)Created: 1 Feb 2024, 4:52 p.m. | Last Modified: 1 Feb 2024, 4:52 p.m.
Panel Version: 4.56
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rod-cone dystrophy; cone-rod dystrophy
Publications
In Carss et al 2017 as one of the biallelic LOF genes - not really enough to includeCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Candidate IRD-associated gene from publication PMID:28041643. Gene containing _2 predicted protein-truncating alleles (High impact), including SVs that are likely to be biallelic. Genomic coordinates refer to genome build GRCh37.Created: 17 Jan 2017, 5:13 p.m.
Phenotypes
Retinitis pigmentosa
Publications
Gene: ubap1l has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: UBAP1L were changed from Retinitis pigmentosa to Rod-cone dystrophy, HP:0000510; cone-rod dystrophy, MONDO:0015993; retinitis pigmentosa, MONDO:0019200
Publications for gene: UBAP1L were set to 28041643
Mode of inheritance for gene: UBAP1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag Q1_24_promote_green tag was added to gene: UBAP1L. Tag Q1_24_NHS_review tag was added to gene: UBAP1L.
Source NHS GMS was added to UBAP1L.
UBAP1L was added to Posterior segment abnormalitiespanel. Sources: Literature
UBAP1L was created by LouiseD