Predominantly Antibody Deficiency
Gene: BTK

BTK (Bruton tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association with agammaglobulinaemia, >100 families reported.

At least 3 families reported with GH deficiency plus agammaglobulinaemia.
Created: 14 Aug 2021, 5:09 a.m. | Last Modified: 14 Aug 2021, 5:09 a.m.

Panel Version: 0.86

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Agammaglobulinaemia, X-linked 1, MIM# 300755; Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200

Publications

Created: 14 Aug 2021, 5:09 a.m.
Last Modified: 14 Aug 2021, 5:09 a.m.
Panel version: 0.86

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Agammaglobulinaemia, X-linked 1, MIM# 300755
Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200

Tags

treatable

OMIM

300300

Clinvar variants

Variants in BTK

Penetrance

None

Publications

Panels with this gene