Syndromic Retinopathy
Gene: HBS1L
HBS1L (HBS1 like translational GTPase)
EnsemblGeneIds (GRCh38): ENSG00000112339
EnsemblGeneIds (GRCh37): ENSG00000112339
OMIM: 612450, Gene2Phenotype
HBS1L is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000112339
EnsemblGeneIds (GRCh37): ENSG00000112339
OMIM: 612450, Gene2Phenotype
HBS1L is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single case with biallelic variants reported with retinal dystrophy, poor growth and neurodevelopmental delay (originally reported in 2013). A hypomorph mouse model demonstrated defective development of photoreceptor cells.
Sources: LiteratureCreated: 1 Aug 2024, 5:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal disorder MONDO:0005283
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Retinal disorder MONDO:0005283
- OMIM
- 612450
- Clinvar variants
- Variants in HBS1L
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Aug 2024, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hbs1l has been classified as Amber List (Moderate Evidence).
1 Aug 2024, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hbs1l has been classified as Amber List (Moderate Evidence).
1 Aug 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HBS1L was added gene: HBS1L was added to Syndromic Retinopathy. Sources: Literature Mode of inheritance for gene: HBS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HBS1L were set to 38966981; 24288412; 30707697 Phenotypes for gene: HBS1L were set to Retinal disorder MONDO:0005283 Review for gene: HBS1L was set to AMBER