BTK

Bruton tyrosine kinase
OMIM: 300300, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green BTK in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	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 Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Expert list Phenotypes Agammaglobulinemia and isolated hormone deficiency 307200 Agammaglobulinemia, X-linked 1 300755
Red BTK in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Phenotypes Early Onset Inflammatory Bowel Disease Agammaglobulinemia and isolated hormone deficiency 307200 Agammaglobulinemia, X-linked 1 300755
Red BTK in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	Not set	Sources Expert Review Red Emory Genetics Laboratory
Green BTK in COVID-19 research Level 2: Viral research Version 1.146	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources IUIS Classification February 2018 A- or hypo-gammaglobulinaemia v1.25 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Agammaglobulinemia, X-linked 1, 300755 Agammaglobulinemia, X-linked Agammaglobulinemia, X-linked 1 (XLA) Agammaglobulinemia Severe bacterial infections, normal numbers of pro-B cells agammaglobulinaemia Agammaglobulinemia and isolated hormone deficiency, 307200 Agammaglobulinemia and isolated hormone deficiency Predominantly Antibody Deficiencies CVID
Green BTK in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, OMIM:307200 Tags Q4_25_demote_red disputed
Green BTK in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Agammaglobulinemia and isolated hormone deficiency Agammaglobulinemia, X-linked Agammaglobulinemia, X-linked 1, 300755 Agammaglobulinemia and isolated hormone deficiency, 307200 Agammaglobulinemia, X-linked 1 (XLA) Agammaglobulinemia agammaglobulinaemia CVID Severe bacterial infections, normal numbers of pro-B cells Predominantly Antibody Deficiencies
No list BTK in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Red BTK in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Agammaglobulinemia and isolated hormone deficiency 307200 Agammaglobulinemia, X-linked 1 300755
Red BTK in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	Not set	Sources NHS GMS Expert Review Red
Green BTK in Agammaglobulinaemia with absent BTK expression Level 2: Immunology Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	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
Red BTK in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinaemia, OMIM:307200 Tags disputed