Cerebellar and Pontocerebellar Hypoplasia
Gene: UFM1

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

1 review

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. All reported individuals developed intractable seizures. Cerebellar hypoplasia/atrophy reported on imaging.
Created: 5 Jan 2020, 5:43 a.m. | Last Modified: 5 Jan 2020, 5:43 a.m.

Panel Version: 0.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 14, MIM# 617899

Publications

Created: 5 Jan 2020, 5:43 a.m.
Last Modified: 5 Jan 2020, 5:43 a.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Leukodystrophy, hypomyelinating, 14, MIM# 617899

OMIM

610553

Clinvar variants

Variants in UFM1

Penetrance

None

Publications

Panels with this gene