Severe microcephaly

Gene: UBA5

Red List (low evidence)

UBA5 (ubiquitin like modifier activating enzyme 5)
EnsemblGeneIds (GRCh38): ENSG00000081307
EnsemblGeneIds (GRCh37): ENSG00000081307
OMIM: 610552, Gene2Phenotype
UBA5 is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). 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, 3:13 p.m. | Last Modified: 29 Jul 2019, 3:30 p.m.
Panel Version: 1.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 44, 617132

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 44, 617132
OMIM
610552
Clinvar variants
Variants in UBA5
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: UBA5 were set to

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to UBA5.

29 Jul 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: UBA5 was added gene: UBA5 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 Review for gene: UBA5 was set to GREEN