Retinal disorders

Gene: UBAP1L

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 26 Sep 2024, 3:50 p.m.

Panel Version: 6.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

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

Green List (high evidence)

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

• PMID: 38293907
• PMID: 28041643

Red List (low evidence)

In Carss et al 2017 as one of the biallelic LOF genes - not really enough to include

Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159

Red List (low evidence)

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

• 28041643