FAM111B

family with sequence similarity 111 member B
OMIM: 615584, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green FAM111B in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Green FAM111B in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Phenotypes Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Green FAM111B in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Green FAM111B in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.57	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services
Green FAM111B in Hair disorders Level 2: Dermatological disorders Version 0.71	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Red FAM111B in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
Red FAM111B in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis