Severe microcephaly

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 5 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

PMID:29868776 - 3 families, consanguineous Saudi origin, 1 child of Swiss origin, two variants. Phenotype includes postnatal microcephaly in 7/8 individuals with UFC1 variants. Provisionally rated Green.
Created: 10 Oct 2019, 10:30 a.m. | Last Modified: 10 Oct 2019, 10:30 a.m.
Panel Version: 1.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spasticity and poor growth, 618076

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on publications: review from Geoff Woods: 5 families reported in PMID 30552426 and 29868776
Created: 19 Aug 2019, 4:58 p.m. | Last Modified: 19 Aug 2019, 4:58 p.m.
Panel Version: 1.72
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). It was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green
Sources: Expert list
Created: 29 Jul 2019, 3:54 p.m. | Last Modified: 29 Jul 2019, 3:55 p.m.
Panel Version: 1.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spasticity and poor growth, 618076; microcephaly

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with spasticity and poor growth, 618076
  • microcephaly
OMIM
610554
Clinvar variants
Variants in UFC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: UFC1 were set to 26917597

19 Aug 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: UFC1 were set to

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to UFC1.

29 Jul 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: UFC1 was added gene: UFC1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth, 618076; microcephaly Review for gene: UFC1 was set to AMBER