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Severe Paediatric Disorders

Gene: UBE2A

Green List (high evidence)

UBE2A (ubiquitin conjugating enzyme E2 A)
EnsemblGeneIds (GRCh38): ENSG00000077721
EnsemblGeneIds (GRCh37): ENSG00000077721
OMIM: 312180, Gene2Phenotype
UBE2A is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: UBE2A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3); Mode of inheritance: X-linked recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, X-linked syndromic, Nascimento-type, 300860
OMIM
312180
Clinvar variants
Variants in UBE2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene UBE2A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked syndromic, Nascimento-type, 300860 for gene: UBE2A