UNC45A

unc-45 myosin chaperone A
OMIM: 611219, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green UNC45A in Cholestasis Level 2: Gastroenterological disorders Version 1.8 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteootohepatoenteric syndrome, MIM# 619377 Cholestasis Diarrhoea Bone fragility Impaired hearing Tags 5'UTR
Green UNC45A in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 1.30	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteootohepatoenteric syndrome, MIM# 619377 Cholestasis Diarrhoea Bone fragility Impaired hearing
Green UNC45A in Mendeliome Version 1.4235	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteootohepatoenteric syndrome, MIM# 619377 Cholestasis Diarrhoea Bone fragility Impaired hearing Tags 5'UTR
Green UNC45A in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders; Endocrine disorders Version 1.17	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteootohepatoenteric syndrome, MIM# 619377 cholestasis congenital diarrhea impaired hearing bone fragility
Green UNC45A in Lymphoedema_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.14 Component of the following Super Panels: Vascular Malformations SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Osteootohepatoenteric syndrome, MIM# 619377 Cholestasis Diarrhoea Bone fragility Impaired hearing Tags 5'UTR