A- or hypo-gammaglobulinaemia
Gene: BTKEnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 11 panels
7 reviews
Adrian Shields (Oxford University NHS Foundation Trust and University of Oxford)
FACS for BTK protein expression in lymphocytesCreated: 29 Jun 2018, 2:27 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Christopher Duncan (Newcastle University)
Tracy Briggs (Manchester Genomic Medicine Centre)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Peter Arkwright (Royal Manchester Foundation Trust)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Strong evidence from expert review and literatureCreated: 10 May 2016, 9:20 a.m.
William Rae (University Hospital Southampton NHS Foundation Trust)
Sophie Hambleton (Newcastle University)
Widely recognised as commonest single cause of agammaglobulinaemia in males. Flow cytometric protein expression assay for disease and carrier status as well as UKGTN testing available.Created: 19 Oct 2015, 9:53 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
agammaglobulinaemia; CVID
Publications
- http://www.ncbi.nlm.nih.gov/books/NBK1453/
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Agammaglobulinemia, X-linked
- Agammaglobulinemia, X-linked 1, 300755Agammaglobulinemia and isolated hormone deficiency, 307200
- OMIM
- 300300
- Clinvar variants
- Variants in BTK
- Penetrance
- Complete
- 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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()BTK was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()BTK was added to A- or hypo-gammaglobulinaemiapanel. Sources: UKGTN
Added New Source
GEL ()BTK was added to A- or hypo-gammaglobulinaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services