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Gene: UBE2A

Green List (high evidence)
UBE2A (ubiquitin conjugating enzyme E2 A)
EnsemblGeneIds (GRCh38): ENSG00000077721
EnsemblGeneIds (GRCh37): ENSG00000077721
OMIM: 312180, Gene2Phenotype
UBE2A is in 6 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by moderate-severe intellectual disability, dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy. Female carriers have normal cognition, but may show subtle facial features.
Carrier females unaffected and show skewed X inactivation in blood.
Described in >10 unrelated families. At least 7 large deletions have been described, see PMID 24053514 for summary. Some of these delete other genes.
Created: 22 Jan 2025, 6:22 a.m. | Last Modified: 22 Jan 2025, 6:22 a.m.
Panel Version: 1.1257

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860

Publications

Created: 22 Jan 2025, 6:22 a.m.
Last Modified: 22 Jan 2025, 6:22 a.m.
Panel version: 1.1257

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860
OMIM
312180
Clinvar variants
Variants in UBE2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ube2a has been classified as Green List (High Evidence).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBE2A were changed from Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3) to Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBE2A were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBE2A was added gene: UBE2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)