UBE3A

ubiquitin protein ligase E3A
OMIM: 601623, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green UBE3A in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Angelman syndrome, MIM#105830 Tags SV/CNV
Green UBE3A in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.224	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green UBE3A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Literature Phenotypes Angelman syndrome , OMIM #105830
Green UBE3A in Mendeliome Version 1.3499	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Angelman syndrome, MIM#105830 Tags SV/CNV
Green UBE3A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.353	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Angelman syndrome MIM#105830 Tags SV/CNV
Green UBE3A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.263 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Angelman syndrome, MIM#105830
Green UBE3A in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.590	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green UBE3A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Phenotypes Angelman syndrome MONDO:0007113
Green UBE3A in Imprinting disorders Version 1.8	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Genomics England PanelApp Expert Review Green Phenotypes Affected tissue: brain Phenotype resulting from under expression: Angelman Syndrome
Red UBE3A in Fetal anomalies Version 1.465	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Angelman syndrome MIM#105830