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Mendeliome

Gene: CASP8

Amber List (moderate evidence)

CASP8 (caspase 8)
EnsemblGeneIds (GRCh38): ENSG00000064012
EnsemblGeneIds (GRCh37): ENSG00000064012
OMIM: 601763, Gene2Phenotype
CASP8 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Amber in view of the functional data.
Created: 28 Mar 2022, 7:29 a.m. | Last Modified: 28 Mar 2022, 7:29 a.m.
Panel Version: 0.12203

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

Borderline red/amber

1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)

Mice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.
Created: 28 Mar 2022, 5:30 a.m. | Last Modified: 28 Mar 2022, 5:35 a.m.
Panel Version: 0.12152

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
utoimmune lymphoproliferative syndrome, type IIB MIM#607271

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
OMIM
601763
Clinvar variants
Variants in CASP8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: casp8 has been classified as Amber List (Moderate Evidence).

28 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271

28 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CASP8 were set to

28 Mar 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: casp8 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CASP8 was added gene: CASP8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CASP8 was set to Unknown