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Severe Paediatric Disorders

Gene: CASP8

Amber List (moderate evidence)

CASP8 (caspase 8)
EnsemblGeneIds (GRCh38): ENSG00000064012
EnsemblGeneIds (GRCh37): ENSG00000064012
OMIM: 601763, Gene2Phenotype
CASP8 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CASP8; Recommended initial gene rating: I don't know; Phenotypes: ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Autoimmune lymphoproliferative syndrome, type IIB, 607271
OMIM
601763
Clinvar variants
Variants in CASP8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CASP8 were updated from to 30847515

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 for gene: CASP8

20 Feb 2020, Gel status: 2