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Severe Paediatric Disorders

Gene: RNF31

Red List (low evidence)

RNF31 (ring finger protein 31)
EnsemblGeneIds (GRCh38): ENSG00000092098
EnsemblGeneIds (GRCh37): ENSG00000092098
OMIM: 612487, Gene2Phenotype
RNF31 is in 3 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: RNF31; Recommended initial gene rating: Red List (low evidence); Phenotypes: Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Red
  • Expert list
Phenotypes
  • Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192
OMIM
612487
Clinvar variants
Variants in RNF31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene RNF31 were updated from to 30847515

20 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 for gene: RNF31