Newborns main panel
Gene: BTK

BTK (Bruton tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 11 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

https://search.clinicalgenome.org/kb/genes/HGNC:1133
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

MOI reviewed by clinical team. Mafalda Gomes comment: Heterozygous females. A single female with XLA has been reported. Her father had XLA and analysis demonstrated exclusive use of the paternally derived X chromosome as the active X [Takada et al 2004]. Females who inherit the pathogenic variant will be carriers and are highly unlikely to be affected.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.

Panel Version: 0.40

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

Phenotypes
X-linked agammaglobulinemia

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance

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

Sources

Expert Review Green

Phenotypes

X-linked Agammaglobulinaemia

OMIM

300300

Clinvar variants

Variants in BTK

Penetrance

None

Panels with this gene

History Filter Activity

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: BTK were changed from X-linked agammaglobulinaemia to X-linked Agammaglobulinaemia

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: BTK were changed from X-linked agammaglobulinemia to X-linked agammaglobulinaemia

14 Sep 2023, Gel status: 3