PanelApp
  1. Genes and Genomic Entities
  2. FAM111B

FAM111B

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green FAM111B in Mendeliome


Version 1.3512

2 reviews 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 1.108

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  2 reviews 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 0.136

    		1 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 0.92

    		2 reviews 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 0.81

    		2 reviews 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

    		0 reviews 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews 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