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Severe Paediatric Disorders

Gene: CFHR1

Red List (low evidence)

CFHR1 (complement factor H related 1)
EnsemblGeneIds (GRCh38): ENSG00000244414
EnsemblGeneIds (GRCh37): ENSG00000244414
OMIM: 134371, Gene2Phenotype
CFHR1 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: CFHR1; Recommended initial gene rating: Red List (low evidence); Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3); Mode of inheritance: Autosomal recessive, 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Red
  • Expert list
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922
OMIM
134371
Clinvar variants
Variants in CFHR1
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 CFHR1 were updated from to 30847515

20 Feb 2020, Gel status: 1