Glaucoma (developmental)
Gene: SPATA13
SPATA13 (spermatogenesis associated 13)
EnsemblGeneIds (GRCh38): ENSG00000182957
EnsemblGeneIds (GRCh37): ENSG00000182957
OMIM: 613324, Gene2Phenotype
SPATA13 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000182957
EnsemblGeneIds (GRCh37): ENSG00000182957
OMIM: 613324, Gene2Phenotype
SPATA13 is in 2 panels
1 review
Eleanor Williams (Genomics England Curator)
PMID: 32339198 Waseem et al report 1 large UK family and 8 unrelated individuals with variants in SPATA13 and primary angle-closure glaucoma. This is sufficient to rate this gene green for the disease association, however as the disease is adult-onset in these patients it is not appropriate to rate it green on this panel. Adding as red on advice of Genomics England Clinical team so that it will be reviewed if the scope of the panel changes in future.
Sources: LiteratureCreated: 23 Jun 2020, 4:08 p.m. | Last Modified: 23 Jun 2020, 4:26 p.m.
Panel Version: 1.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Primary Angle Closure Glaucoma
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- Primary Angle Closure Glaucoma
- Tags
- OMIM
- 613324
- Clinvar variants
- Variants in SPATA13
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Jun 2020, Gel status: 1
Added Tag
Eleanor Williams (Genomics England Curator)Tag adult-onset tag was added to gene: SPATA13.
23 Jun 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SPATA13 was added gene: SPATA13 was added to Glaucoma (developmental). Sources: Literature Mode of inheritance for gene: SPATA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPATA13 were set to 32339198 Phenotypes for gene: SPATA13 were set to Primary Angle Closure Glaucoma Review for gene: SPATA13 was set to RED