BTK

Bruton tyrosine kinase
OMIM: 300300, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red BTK in Cataract Level 2: Ophthalmological disorders Version 0.631	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes X-linked agammaglobulinemia isolated growth hormone deficiency type III with agammaglobulinemia
Green BTK in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.126 Component of the following Super Panels: Immunological disorders_SuperPanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green BTK in Mendeliome Version 1.4558	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia, X-linked 1, MIM# 300755 Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200 Tags treatable
Green BTK in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 1.4 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	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
Green BTK in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Agammaglobulinemia and isolated hormone deficiency, 307200 (3)
Green BTK in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.176	1 review	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)
Red BTK in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.224	0 reviews	Unknown	Sources Expert Review Red NHS GMS
Green BTK in Additional findings_Paediatric Level 2: Screening Version 0.280	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Agammaglobulinemia, X-linked 1
Green BTK in Growth failure Version 1.99	1 review	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 agammaglobulinaemia, MIM# 307200
Green BTK in Prepair 1000+ Level 2: Screening Version 2.15	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Agammaglobulinemia, X-linked 1 MIM#300755 Bruton-type agammaglobulinemia MONDO:0010421 Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615
Green BTK in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Agammaglobulinemia, X-linked 1, MIM#300755 Tags treatable immunological
Green BTK in Prepair 500+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Agammaglobulinemia, X-linked 1 MIM#300755 Bruton-type agammaglobulinemia MONDO:0010421 Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615