Microcephaly
Gene: UBE3BEnsemblGeneIds (GRCh38): ENSG00000151148
EnsemblGeneIds (GRCh37): ENSG00000151148
OMIM: 608047, Gene2Phenotype
UBE3B is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Intellectual disability, microcephaly, dysmorphic features, including blepharophimosis and ptosis. Over 20 families reported.
Sources: Expert ReviewCreated: 5 Jun 2021, 7:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kaufman oculocerebrofacial syndrome, MIM# 244450; MONDO:0009485
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Kaufman oculocerebrofacial syndrome, MIM# 244450
- MONDO:0009485
- OMIM
- 608047
- Clinvar variants
- Variants in UBE3B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ube3b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ube3b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: UBE3B was added gene: UBE3B was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE3B were set to 23200864; 23200864; 34012380; 32949109 Phenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, MIM# 244450; MONDO:0009485 Review for gene: UBE3B was set to GREEN