PanelApp
  1. Genes and Genomic Entities
  2. UFM1

UFM1

ubiquitin fold modifier 1
OMIM: 610553, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green UFM1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.91

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 14, MIM# 617899

Green UFM1 in Mendeliome


Version 1.3499

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 14, MIM# 617899

Green UFM1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.353

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 14 MIM#617899
Tags
  • founder

Green UFM1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.50

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leukodystrophy, hypomyelinating, 14, MIM# 617899

    Green UFM1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.263

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Leukodystrophy, hypomyelinating, 14, MIM# 617899

    Green UFM1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 14
    • OMIM #617899

    Green UFM1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 14 617899

    Green UFM1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive

    Red UFM1 in Fetal anomalies


    Version 1.465

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Literature
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 14 MIM#617899

    Green UFM1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukodystrophy, hypomyelinating, 14, MIM#617899