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Severe Paediatric Disorders

Gene: UBE3B

Green List (high evidence)

UBE3B (ubiquitin protein ligase E3B)
EnsemblGeneIds (GRCh38): ENSG00000151148
EnsemblGeneIds (GRCh37): ENSG00000151148
OMIM: 608047, Gene2Phenotype
UBE3B is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: UBE3B; Recommended initial gene rating: Green List (high evidence); Phenotypes: Kaufman oculocerebrofacial syndrome, 244450 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Kaufman oculocerebrofacial syndrome, 244450
OMIM
608047
Clinvar variants
Variants in UBE3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene UBE3B were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Kaufman oculocerebrofacial syndrome, 244450 for gene: UBE3B

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Kaufman oculocerebrofacial syndrome, 244450 for gene: UBE3B

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Kaufman oculocerebrofacial syndrome, 244450 for gene: UBE3B

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Kaufman oculocerebrofacial syndrome, 244450 for gene: UBE3B

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene UBE3B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Kaufman oculocerebrofacial syndrome, 244450 for gene: UBE3B

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to UBE3B.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to UBE3B. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: UBE3B was added gene: UBE3B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: UBE3B was set to