Disorders of immune dysregulation
Gene: CASP10

CASP10 (caspase 10)
EnsemblGeneIds (GRCh38): ENSG00000003400
EnsemblGeneIds (GRCh37): ENSG00000003400
OMIM: 601762, Gene2Phenotype
CASP10 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Total of 15 individuals included in the review.

Asymptomatic carriers noted.
Created: 28 Mar 2022, 7:18 a.m. | Last Modified: 28 Mar 2022, 7:18 a.m.

Panel Version: 0.115

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoimmune lymphoproliferative syndrome, type II MIM#603909

Publications

Created: 28 Mar 2022, 7:18 a.m.
Last Modified: 28 Mar 2022, 7:18 a.m.
Panel version: 0.115

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Total of 15 individuals included in the review.

Asymptomatic carriers noted.
Created: 28 Mar 2022, 4:55 a.m. | Last Modified: 28 Mar 2022, 4:55 a.m.

Panel Version: 0.12148

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoimmune lymphoproliferative syndrome, type II MIM#603909

Publications

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

Created: 28 Mar 2022, 4:55 a.m.
Last Modified: 28 Mar 2022, 4:55 a.m.
Panel version: Imported from Mendeliome panel version 0.12148

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Autoimmune lymphoproliferative syndrome, type II MIM#603909

OMIM

601762

Clinvar variants

Variants in CASP10

Penetrance

None

Publications

Panels with this gene