Autoimmune Lymphoproliferative Syndrome
Gene: CASP10EnsemblGeneIds (GRCh38): ENSG00000003400
EnsemblGeneIds (GRCh37): ENSG00000003400
OMIM: 601762, Gene2Phenotype
CASP10 is in 6 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Total of 15 individuals included in the review.
Asymptomatic carriers noted.
Sources: LiteratureCreated: 22 Nov 2024, 4:45 a.m.
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Autoimmune lymphoproliferative syndrome, type II MIM#603909
- OMIM
- 601762
- Clinvar variants
- Variants in CASP10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: casp10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: casp10 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: CASP10 was added gene: CASP10 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASP10 were set to 34329798; 34384744; 20301287 Phenotypes for gene: CASP10 were set to Autoimmune lymphoproliferative syndrome, type II MIM#603909 Review for gene: CASP10 was set to GREEN gene: CASP10 was marked as current diagnostic