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Severe Paediatric Disorders

Gene: SNRPB

Green List (high evidence)

SNRPB (small nuclear ribonucleoprotein polypeptides B and B1)
EnsemblGeneIds (GRCh38): ENSG00000125835
EnsemblGeneIds (GRCh37): ENSG00000125835
OMIM: 182282, Gene2Phenotype
SNRPB is in 6 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: SNRPB; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cerebrocostomandibular syndrome, 117650 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebrocostomandibular syndrome, 117650
OMIM
182282
Clinvar variants
Variants in SNRPB
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 SNRPB were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cerebrocostomandibular syndrome, 117650 for gene: SNRPB