DDG2P
Gene: UBE3C

UBE3C (ubiquitin protein ligase E3C)
EnsemblGeneIds (GRCh38): ENSG00000009335
EnsemblGeneIds (GRCh37): ENSG00000009335
OMIM: 614454, Gene2Phenotype
UBE3C is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 36401616).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities

Publications

36401616

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities

OMIM

614454

Clinvar variants

Variants in UBE3C

Penetrance

None

Publications

36401616

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: UBE3C was added gene: UBE3C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE3C were set to 36401616 Phenotypes for gene: UBE3C were set to UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities

DDG2P Gene: UBE3C