UFM1

ubiquitin fold modifier 1
OMIM: 610553, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green UFM1 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.11
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 14, OMIM:617899
    Green UFM1 in Severe microcephaly


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 14, 617899
    • microcephaly
    Red UFM1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • Severe early-onset encephalopathy with progressive microcephaly,
    Green UFM1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Severe early-onset encephalopathy with progressive microcephaly,
    Green UFM1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Leukodystrophy hypomyelinating 14, 617899
    Green UFM1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    • Literature
    Phenotypes
    • global developmental delay with progressive microcephaly
    • Leukodystrophy hypomyelinating 14, 617899
    • Leukodystrophy, hypomyelinating, 14, 617899
    Tags
    • de novo