Agammaglobulinaemia with absent BTK expression
Gene: BTKEnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 11 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #300755 & #307200) and OMIM records were last accessed on 17 December 2025.Created: 17 Dec 2025, 8:36 p.m. | Last Modified: 17 Dec 2025, 8:38 p.m.
Panel Version: 1.2
Eleanor Williams (Genomics England Curator)
BTK has been added to the panel for the clinical indication 'R233 Agammaglobulinaemia with absent BTK expression' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 14 Jan 2023, 6:29 p.m. | Last Modified: 14 Jan 2023, 9:27 p.m.
Panel Version: 0.4
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Agammaglobulinemia, X-linked 1, OMIM:300755
- Isolated growth hormone deficiency, type III, with agammaglobulinemia, OMIM:307200
- Bruton-type agammaglobulinemia, MONDO:0010421
- isolated growth hormone deficiency type III, MONDO:0010615
- OMIM
- 300300
- Clinvar variants
- Variants in BTK
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Agammaglobulinaemia with absent BTK expression
- IUGR and IGF abnormalities
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Pituitary hormone deficiency
- Monogenic short stature
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Osteogenesis imperfecta
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: BTK were changed from to Agammaglobulinemia, X-linked 1, OMIM:300755; Isolated growth hormone deficiency, type III, with agammaglobulinemia, OMIM:307200; Bruton-type agammaglobulinemia, MONDO:0010421; isolated growth hormone deficiency type III, MONDO:0010615
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: BTK was added gene: BTK was added to Agammaglobulinaemia with absent BTK expression. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)