FAM111B

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green FAM111B in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 615704

Red FAM111B in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3)

Green FAM111B in Pigmentary skin disorders


Version 1.50
Latest signed off version: v1.4 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hereditary fibrosing poikiloderma
  • POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
  • POIKTMP

Red FAM111B in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3)

Red FAM111B in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.89
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704

    Red FAM111B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704

    Green FAM111B in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704