Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

20 families reported with encephalopathy/ID phenotype with functional studies.
Created: 4 Dec 2019, 11:30 p.m. | Last Modified: 4 Dec 2019, 11:30 p.m.
Panel Version: 0.387
Sources: Expert list
Created: 4 Dec 2019, 11:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 14; OMIM #617899

Publications

Details

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

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

4 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: UFM1 was added gene: UFM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to PubMed: 27545674; 27545681; 28931644 Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14; OMIM #617899 Review for gene: UFM1 was set to GREEN