Paediatric or syndromic cardiomyopathy
Gene: BTK
BTK (Bruton tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 11 panels
1 review
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Details
- Sources
-
- NHS GMS
- Expert Review Red
- OMIM
- 300300
- Clinvar variants
- Variants in BTK
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Intellectual disability
- Agammaglobulinaemia with absent BTK expression
- IUGR and IGF abnormalities
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pituitary hormone deficiency
- Monogenic short stature
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
2 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: BTK was added gene: BTK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: BTK was set to