Pituitary hormone 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)

At least 4 families reported with GH deficiency plus agammaglobulinaemia.
Created: 14 Aug 2021, 5:19 a.m. | Last Modified: 14 Aug 2021, 5:19 a.m.

Panel Version: 0.13

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

Phenotypes
Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200

Publications

Created: 14 Aug 2021, 5:19 a.m.
Last Modified: 14 Aug 2021, 5:19 a.m.
Panel version: 0.13

Details

Mode of Inheritance

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

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200)

OMIM

300300

Clinvar variants

Variants in BTK

Penetrance

None

Publications

Panels with this gene

History Filter Activity

14 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: btk has been classified as Green List (High Evidence).

13 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

gene: BTK was added gene: BTK was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BTK were set to 9554752; 8013627; 7849697 Phenotypes for gene: BTK were set to Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200)

Pituitary hormone deficiency Gene: BTK