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Newborns additional phenotypes panel 2

Gene: CFH

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Removed from pipeline on 09 Sep 2024 (resource release 2.2).

Additional information: While there are interventions in place for this condition, there is significant uncertainty regarding penetrance - the likelihood of an individual developing this condition when they have a CFH variant in the absence of any family history. Only CHF variants that follow an autosomal dominant inheritance pattern are excluded; the CFH gene is still being analysed for variants associated with an autosomal recessive inheritance pattern which cause an immune condition.
Created: 25 Sep 2024, 11:17 a.m. | Last Modified: 25 Sep 2024, 11:17 a.m.
Panel Version: 0.27
Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.

Additional comments: specialists in complement disorders indicated variable penetrance for CHF variants that follow an autosomal dominant inheritance pattern.
Created: 19 Aug 2024, 2:41 p.m. | Last Modified: 19 Aug 2024, 2:41 p.m.
Panel Version: 0.27
Created: 19 Aug 2024, 2:41 p.m.
Last Modified: 19 Aug 2024, 2:41 p.m.
Panel version: 0.27

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 7 Jul 2023, 9:10 a.m. | Last Modified: 7 Jul 2023, 9:10 a.m.
Panel Version: 0.9
PMID: 18190458
Created: 7 Jul 2023, 9:10 a.m. | Last Modified: 7 Jul 2023, 9:10 a.m.
Panel Version: 0.9
Created: 7 Jul 2023, 9:10 a.m.
Last Modified: 7 Jul 2023, 9:10 a.m.
Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Complement factor H deficiency, autosomal dominant
Tags
condition_removed
OMIM
134370
Clinvar variants
Variants in CFH
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag condition_removed tag was added to gene: CFH.

19 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cfh has been classified as Amber List (Moderate Evidence).

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CFH were changed from Complement factor H deficiency to Complement factor H deficiency, autosomal dominant

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Complement factor H deficiency for gene: CFH

5 Jul 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: CFH was added gene: CFH was added to Newborns additional phenotypes panel 2. Sources: Expert Review Green Mode of inheritance for gene: CFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFH were set to Complement factor H deficiency