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  3. CASP8
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Vasculitis

Gene: CASP8

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

1 family only plus supportive functional data. No specific link to vasculitis I can find.
Created: 28 Mar 2022, 7:30 a.m. | Last Modified: 28 Mar 2022, 7:30 a.m.
Panel Version: 0.56

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune lymphoproliferative syndrome, type IIB MIM#607271

Publications

Created: 28 Mar 2022, 7:30 a.m.
Last Modified: 28 Mar 2022, 7:30 a.m.
Panel version: 0.56

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: casp8 has been classified as Red List (Low Evidence).

28 Mar 2022, Gel status: 1

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: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CASP8 were set to

28 Mar 2022, Gel status: 1

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: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: casp8 has been classified as Red List (Low 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 Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CASP8 was set to Unknown