Cataract
Gene: SIPA1L3
SIPA1L3 (signal induced proliferation associated 1 like 3)
EnsemblGeneIds (GRCh38): ENSG00000105738
EnsemblGeneIds (GRCh37): ENSG00000105738
OMIM: 616655, Gene2Phenotype
SIPA1L3 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000105738
EnsemblGeneIds (GRCh37): ENSG00000105738
OMIM: 616655, Gene2Phenotype
SIPA1L3 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: There is growing evidence supporting biallelic inheritanceCreated: 15 Apr 2020, 4:23 a.m. | Last Modified: 15 Apr 2020, 4:23 a.m.
Panel Version: 0.127
A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217).
Sources: Expert listCreated: 15 Apr 2020, 4:21 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 45 MIM#616851
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Cataract 45 MIM#616851
- OMIM
- 616655
- Clinvar variants
- Variants in SIPA1L3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
15 Apr 2020, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
15 Apr 2020, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
15 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SIPA1L3 was added gene: SIPA1L3 was added to Cataract. Sources: Expert list Mode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400 Phenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851 Review for gene: SIPA1L3 was set to AMBER