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  3. CFH
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Kidneyome_SuperPanel_KidGen_VCGS

Gene: CFH

Green List (high evidence)
CFH (complement factor H)
EnsemblGeneIds (GRCh38): ENSG00000000971
EnsemblGeneIds (GRCh37): ENSG00000000971
OMIM: 134370, Gene2Phenotype
CFH is in 6 panels

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Complement factor H deficiency, MIM#609814
OMIM
134370
Clinvar variants
Variants in CFH
Penetrance
None
Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene CFH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Complement factor H deficiency, MIM#609814 for gene: CFH

23 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene CFH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Unknown

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CFH was added gene: CFH was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CFH were set to Complement factor H deficiency, MIM#609814