1. Panels
  2. Cone-rod Dystrophy
  3. UBAP1L
STRs in panel
Prev Next
Regions in panel
Prev Next

Cone-rod Dystrophy

Gene: UBAP1L

Green List (high evidence)
UBAP1L (ubiquitin associated protein 1 like)
EnsemblGeneIds (GRCh38): ENSG00000246922
EnsemblGeneIds (GRCh37): ENSG00000246922
UBAP1L is in 2 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Twelve unrelated families with Hungary, the United States, Israel, Tunisia and the Netherlands with members presenting with autosomal recessive rod-cone or cone-rod dystrophy
- Reported variants included splice, nonsense, frameshift and in-frame del variants
- Age of disease onset was very variable, with some patients experiencing first symptoms during their fourth decade of life or later.
Sources: Literature
Created: 7 Mar 2024, 12:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy (MONDO:0015993), UBAP1L-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Mar 2024, 12:53 a.m.

Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cone-rod dystrophy (MONDO:0015993), UBAP1L-related
Clinvar variants
Variants in UBAP1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubap1l has been classified as Green List (High Evidence).

7 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubap1l has been classified as Green List (High Evidence).

7 Mar 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ee Ming Wong (Victorian Clinical Genetics Services)

gene: UBAP1L was added gene: UBAP1L was added to Cone-rod Dystrophy. Sources: Literature Mode of inheritance for gene: UBAP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBAP1L were set to PMID: 38293907; 38420906 Phenotypes for gene: UBAP1L were set to Cone-rod dystrophy (MONDO:0015993), UBAP1L-related Review for gene: UBAP1L was set to GREEN gene: UBAP1L was marked as current diagnostic