Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: CFH

Green List (high evidence)

CFH (complement factor H)
EnsemblGeneIds (GRCh38): ENSG00000000971
EnsemblGeneIds (GRCh37): ENSG00000000971
OMIM: 134370, Gene2Phenotype
CFH is in 11 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

For aHUS (predisposition):
Typically AD (gene reviews)

For AD Basal laminar drusen MIM#126700:
>3 families where rare heterozygous CFH variants segregate with age-related macular degeneration and cuticular drusen.

For complement deficiency:
Typically AD, likely that AR leads to a more severe phenotype

variants associated with the eye disease are mostly located in the N-terminal region, whereas variants associated with the renal disease are clustered in (but not limited to) the C-terminal
Created: 19 Apr 2022, 1:29 a.m. | Last Modified: 19 Apr 2022, 1:29 a.m.
Panel Version: 0.13058

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Basal laminar drusen MIM#126700; Complement factor H deficiency MIM#609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Basal laminar drusen MIM#126700
  • Complement factor H deficiency MIM#609814
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400
OMIM
134370
Clinvar variants
Variants in CFH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cfh has been classified as Green List (High Evidence).

19 Apr 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CFH were changed from to Basal laminar drusen MIM#126700; Complement factor H deficiency MIM#609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400

19 Apr 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CFH were set to

19 Apr 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFH was added gene: CFH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFH was set to Unknown