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Severe Paediatric Disorders

Gene: RNF135

Red List (low evidence)

RNF135 (ring finger protein 135)
EnsemblGeneIds (GRCh38): ENSG00000181481
EnsemblGeneIds (GRCh37): ENSG00000181481
OMIM: 611358, Gene2Phenotype
RNF135 is in 4 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: RNF135; Recommended initial gene rating: Red List (low evidence); Phenotypes: Epilepsy, progressive myoclonic 5, 613832 (3); Mode of inheritance:
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
  • Epilepsy, progressive myoclonic 5, 613832
OMIM
611358
Clinvar variants
Variants in RNF135
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 RNF135 were updated from to 30847515

20 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135

20 Feb 2020, Gel status: 1