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Intellectual disability syndromic and non-syndromic

Gene: UFC1

Green List (high evidence)

UFC1 (ubiquitin-fold modifier conjugating enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000143222
EnsemblGeneIds (GRCh37): ENSG00000143222
OMIM: 610554, Gene2Phenotype
UFC1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note the NM_016406.4:c.255+17G>A variant is relatively common disease-causing variant.
Created: 10 Oct 2024, 6:58 a.m. | Last Modified: 10 Oct 2024, 6:58 a.m.
Panel Version: 0.6489

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spasticity and poor growth, OMIM #618076

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

3 consanguineous Saudi families with neurodevelopmental disorder with spasticity and poor growth with a homozygous missense mutation in the UFC1 gene. An unrelated Swiss boy with same phenotype found to have a different homozygous mutation in the UFC1 gene. Total 8 patients from 4 families.

The mutations segregated with the disorder in the families. In vitro functional expression studies showed that both mutations caused impaired thioester binding with UFM1 (610553). Patient cells also showed decreased UFC1 intermediate formation with UFM1. The decrease in function was consistent with a hypomorphic allele, and Nahorski et al. (2018) suggested that complete loss of function would be embryonic lethal.
Sources: Expert list
Created: 12 Feb 2020, 3:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spasticity and poor growth; OMIM #618076

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with spasticity and poor growth
  • OMIM #618076
Tags
deep intronic
OMIM
610554
Clinvar variants
Variants in UFC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deep intronic tag was added to gene: UFC1.

16 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ufc1 has been classified as Green List (High Evidence).

12 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: ufc1 has been classified as Green List (High Evidence).

12 Feb 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: UFC1 was added gene: UFC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFC1 were set to PubMed: 29868776 Phenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth; OMIM #618076 Review for gene: UFC1 was set to GREEN