1. Genes and Genomic Entities
  2. TMEM106B

TMEM106B

transmembrane protein 106B
OMIM: 613413, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green TMEM106B in White matter disorders and cerebral calcification - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, hypomyelinating, 16, OMIM:617964
    • Leukodystrophy, hypomyelinating, 16, MONDO:0054791
    Tags
    • missense
    Amber TMEM106B in Ataxia and cerebellar anomalies - narrow panel


    Version 4.64
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 16, OMIM:617964
    • Leukodystrophy, hypomyelinating, 16, MONDO:0054791
    Tags
    • missense
    Green TMEM106B in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 16, OMIM:617964
    • Leukodystrophy, hypomyelinating, 16, MONDO:0054791
    Tags
    • missense
    Green TMEM106B in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TMEM106B related hypomyelinating leukodystrophy
    Amber TMEM106B in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 16, OMIM:617964
    • Leukodystrophy, hypomyelinating, 16, MONDO:0054791
    Tags
    • missense
    Green TMEM106B in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 16, OMIM:617964
    • Leukodystrophy, hypomyelinating, 16, MONDO:0054791
    Tags
    • missense
    Amber TMEM106B in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Leukodystrophy, hypomyelinating, 16, OMIM:617964
    • Leukodystrophy, hypomyelinating, 16, MONDO:0054791
    Tags
    • missense