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Retinal disorders

Gene: UBAP1L

Red List (low evidence)

UBAP1L (ubiquitin associated protein 1 like)
EnsemblGeneIds (GRCh38): ENSG00000246922
EnsemblGeneIds (GRCh37): ENSG00000246922
UBAP1L is in 1 panel

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

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

Louise Daugherty (Genomics England Curator)

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

Details

Sources
  • NHS GMS
  • Literature
Phenotypes
  • Retinitis pigmentosa
Clinvar variants
Variants in UBAP1L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to UBAP1L.

17 Jan 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

UBAP1L was created by LouiseD

17 Jan 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

UBAP1L was added to Posterior segment abnormalitiespanel. Sources: Literature