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 - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  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 - childhood onset


    Level 2: Neurology
    Version 9.26
    Latest signed off version: v9.22 (12 Aug 2026)

    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 1.186

    		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 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    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 2: Neurology
    Version 9.68
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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


    Level 2: Developmental disorders
    Version 11.9
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  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