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  3. UFM1
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Leukodystrophy - paediatric

Gene: UFM1

Green List (high evidence)
UFM1 (ubiquitin fold modifier 1)
EnsemblGeneIds (GRCh38): ENSG00000120686
EnsemblGeneIds (GRCh37): ENSG00000120686
OMIM: 610553, Gene2Phenotype
UFM1 is in 10 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Homozygous missense segregates in 2 consanguineous Sudanese families, and a Roma founder muation found to cause hypomyelinating leukodystrophy.
Sources: Expert list
Created: 19 Jan 2020, 10:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 14 617899

Publications

Created: 19 Jan 2020, 10:47 a.m.

Panel version: 0.48

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

16 children from Roma descent reported initially, all had homozygous 3bp deletion in the promoter of UFM1. Another 4 individuals from 2 Sudanese families reported subsequently, with missense variant in gene.
Sources: Expert list
Created: 5 Jan 2020, 5:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 14, MIM# 617899

Publications

Created: 5 Jan 2020, 5:36 a.m.

Panel version: Imported from Leukodystrophy panel version 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 14 617899
OMIM
610553
Clinvar variants
Variants in UFM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ufm1 has been classified as Green List (High Evidence).

19 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ufm1 has been classified as Green List (High Evidence).

19 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: UFM1 was added gene: UFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to 29868776 Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14 617899