UBE3B

ubiquitin protein ligase E3B
OMIM: 608047, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green UBE3B in Blepharophimosis Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485
Green UBE3B in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485
Green UBE3B in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 Blepharophimosis intellectual disability
Green UBE3B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Kaufman oculocerebrofacial syndrome, 244450 (3)
Amber UBE3B in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Kaufman oculocerebrofacial syndrome, OMIM:244450
Green UBE3B in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Genomics England PanelApp Expert Review Green Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485
Green UBE3B in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Kaufman oculocerebrofacial syndrome, 244450 (3)