UBE3B

ubiquitin protein ligase E3B
OMIM: 608047, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green UBE3B in Blepharophimosis Level 2: Ophthalmological disorders Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485
Green UBE3B in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485
Green UBE3B in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485
Green UBE3B in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485
Green UBE3B in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 Blepharophimosis intellectual disability
Green UBE3B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485
Green UBE3B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Kaufman oculocerebrofacial syndrome, 244450 (3)
Amber UBE3B in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Kaufman oculocerebrofacial syndrome, OMIM:244450
Green UBE3B in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485
Green UBE3B in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Kaufman oculocerebrofacial syndrome, 244450 (3)