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Fetal anomalies

Gene: UFC1

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation is typically post-natal.
Created: 23 Feb 2022, 4:14 a.m. | Last Modified: 23 Feb 2022, 4:14 a.m.
Panel Version: 0.3965

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)

Created: 23 Feb 2022, 4:14 a.m.
Last Modified: 23 Feb 2022, 4:14 a.m.
Panel version: 0.3965

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 29868776: 8 affected individuals from 4 families reported. 7 were described to be postnatally microcephalic (at or below 3rd percentile). One was -5.1SD and one was -3.6SD. SD values for the others weren't provided.

The following head circumference measurements were provided for 6 of the affecteds:

51cm at 16yo; 50cm at 19yo; 42.5cm at 12mo, 45cm at 28mo, 45.2cm at 7yo; 45cm at 4yo.

3 of the families were consanguineous Saudi families with the same homozygous missense variant.

In vitro functional expression studies showed that both mutations caused impaired thioester binding with UFM1. Patient cells also showed decreased UFC1 intermediate formation with UFM1. The decrease in function was consistent with a hypomorphic allele, and the authors suggested that complete loss of function would be embryonic lethal.

PMID 30552426: 1 more individual with epileptic encephalopathy reported with a different homozygous missense variant in UFC1. The patient had microcephaly <3rd percentile.

Sources: Literature
Created: 2 Sep 2020, 4:08 a.m. | Last Modified: 2 Sep 2020, 6:36 a.m.
Panel Version: 0.309

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Sep 2020, 4:08 a.m.
Last Modified: 2 Sep 2020, 6:36 a.m.
Panel version: Imported from Microcephaly panel version 0.309

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

Created: 12 Feb 2020, 3:26 a.m.

Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2130

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)
OMIM
610554
Clinvar variants
Variants in UFC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ufc1 has been classified as Red List (Low Evidence).

23 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UFC1 were changed from Severe early-onset encephalopathy with progressive microcephaly to Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)

23 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UFC1 were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UFC1 was added gene: UFC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly