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Prepair 1000+

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

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association. Neurodevelopmental disorder characterised by intractable seizures, hypotonia, lack of motor skills, absent langauge devleopment. Some can experience hearling loss and blindness. Many die in first years of life.
Created: 6 Mar 2025, 2:25 a.m. | Last Modified: 6 Mar 2025, 2:25 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 14, 617899 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive
OMIM
610553
Clinvar variants
Variants in UFM1
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UFM1 was added gene: UFM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive