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Severe Paediatric Disorders

Gene: C9orf72

Green List (high evidence)

C9orf72 (chromosome 9 open reading frame 72)
EnsemblGeneIds (GRCh38): ENSG00000147894
EnsemblGeneIds (GRCh37): ENSG00000147894
OMIM: 614260, Gene2Phenotype
C9orf72 is in 8 panels

2 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

late onset + STR expansion
Created: 11 Sep 2023, 4:47 a.m. | Last Modified: 11 Sep 2023, 4:47 a.m.
Panel Version: 1.173

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: C9orf72; Recommended initial gene rating: Green List (high evidence); Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 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
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
None
Publications
Panels with this gene