Angelman Rett like syndromes
Gene: UBE3CEnsemblGeneIds (GRCh38): ENSG00000009335
EnsemblGeneIds (GRCh37): ENSG00000009335
OMIM: 614454, Gene2Phenotype
UBE3C is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: LiteratureCreated: 30 Nov 2022, 3:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270
- OMIM
- 614454
- Clinvar variants
- Variants in UBE3C
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder, MONDO:0700092, UBE3C-related to Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ube3c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ube3c has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: UBE3C was added gene: UBE3C was added to Angelman Rett like syndromes. Sources: Literature Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE3C were set to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related Review for gene: UBE3C was set to GREEN