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Severe Paediatric Disorders

Gene: CFHR2

Red List (low evidence)

CFHR2 (complement factor H related 2)
EnsemblGeneIds (GRCh38): ENSG00000080910
EnsemblGeneIds (GRCh37): ENSG00000080910
OMIM: 600889, Gene2Phenotype
CFHR2 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: CFHR2; Recommended initial gene rating: Red List (low evidence); Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) | {Macular degeneration, age-related, reduced risk of}, 603075 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | 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}, 235400
  • {Macular degeneration, age-related, reduced risk of}, 603075
OMIM
600889
Clinvar variants
Variants in CFHR2
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 CFHR2 were updated from to 30847515

20 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2

20 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2

20 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2

19 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Macular degeneration, age-related, reduced risk of}, 603075; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 for gene: CFHR2

19 Feb 2020, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CFHR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2

14 Feb 2020, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CFHR2.

14 Feb 2020, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to CFHR2.

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CFHR2 was added gene: CFHR2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CFHR2 was set to