UBE3B

Amber UBE3B in Limb disorders

Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Victorian Clinical Genetics Services

Phenotypes

• Kaufman oculocerebrofacial syndrome 244450
• Polydactyly

Green UBE3B in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BLEPHAROPHIMOSIS-MENTAL RETARDATION

Green UBE3B in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BLEPHAROPHIMOSIS-MENTAL RETARDATION 615057

Amber UBE3B in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Literature

Phenotypes

• Kaufman oculocerebrofacial syndrome, OMIM:244450

Green UBE3B in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• BLEPHAROPHIMOSIS-MENTAL RETARDATION

Green UBE3B in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Kaufman oculocerebrofacial syndrome, 244450