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Intellectual disability

Gene: UBE4A

Amber List (moderate evidence)

UBE4A (ubiquitination factor E4A)
EnsemblGeneIds (GRCh38): ENSG00000110344
EnsemblGeneIds (GRCh37): ENSG00000110344
OMIM: 603753, Gene2Phenotype
UBE4A is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Sufficient evidence to rate this gene Green at the next GMS panel update - PMID:33420346 report 4 unrelated families with different homozygous LoF variants in UBE4A, supported by some functional data and animal model. Severe ID and GDD was a feature in all affected individuals (8 total).

UBE4A is not associated with any phenotype in OMIM (last edited on 17/09/2010) but has a 'probable' disease confidence rating for 'UBE4A-associated neurodevelopmental disorder' in Gene2Phenotype.
Created: 30 Apr 2021, 12:19 p.m. | Last Modified: 30 Apr 2021, 12:20 p.m.
Panel Version: 3.1049

Zornitza Stark (Australian Genomics)

Green List (high evidence)

8 individuals, from 4 unrelated families, with syndromic intellectual disability and global developmental delay (other clinical features included hypotonia, short stature, seizures, and behaviour disorder. Exome sequencing identified biallelic loss-of-function variants in UBE4A in the 4 families, with variants segregating with disease and parents carriers. They demonstrated that UBE4A loss-of-function variants reduced RNA expression and protein levels in clinical samples. Mice generated to mimic patient-specific Ube4a loss-of-function variant exhibited muscular and neurological/behavioural abnormalities, some of which are suggestive of the clinical abnormalities seen in the affected individuals.
Sources: Literature
Created: 19 Apr 2021, 8:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Intellectual disability


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


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Intellectual disability
Clinvar variants
Variants in UBE4A
Panels with this gene

History Filter Activity

30 Apr 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: UBE4A.

30 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ube4a has been classified as Amber List (Moderate Evidence).

19 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: UBE4A was added gene: UBE4A was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: UBE4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE4A were set to 33420346 Phenotypes for gene: UBE4A were set to Intellectual disability Review for gene: UBE4A was set to GREEN gene: UBE4A was marked as current diagnostic