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  3. CFH
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Macular Dystrophy/Stargardt Disease

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 families where rare heterozygous CFH variants segregate with age-related macular degeneration and cuticular drusen.
Created: 5 Feb 2020, 3:56 a.m. | Last Modified: 5 Feb 2020, 3:56 a.m.
Panel Version: 0.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Basal laminar drusen MIM#126700

Publications

Created: 5 Feb 2020, 3:56 a.m.
Last Modified: 5 Feb 2020, 3:56 a.m.
Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Basal laminar drusen, 126700
OMIM
134370
Clinvar variants
Variants in CFH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFH were changed from {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700 to Basal laminar drusen, 126700

9 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CFH were set to

5 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Dec 2019, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CFH was added gene: CFH was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: CFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFH were set to {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700