Haematuria_Alport
Gene: CFHEnsemblGeneIds (GRCh38): ENSG00000000971
EnsemblGeneIds (GRCh37): ENSG00000000971
OMIM: 134370, Gene2Phenotype
CFH is in 11 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
This is more a complement mediated disease rather than a true haematuria/GBM disease.Created: 3 Jan 2020, 4:57 a.m. | Last Modified: 3 Jan 2020, 4:57 a.m.
Panel Version: 0.13
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Deposition of complement component C3 in glomerular basement membrane and haematuria described.Created: 20 Dec 2019, 4:51 a.m. | Last Modified: 20 Dec 2019, 4:51 a.m.
Panel Version: 0.5
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Complement factor H deficiency, MIM#609814
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Complement factor H deficiency, MIM#609814
- OMIM
- 134370
- Clinvar variants
- Variants in CFH
- Penetrance
- None
- Panels with this gene
-
- Complement Deficiencies
- Mackenzie's Mission_Reproductive Carrier Screening
- Haematuria_Alport
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Vasculitis
- Macular Dystrophy/Stargardt Disease
- Intellectual disability syndromic and non-syndromic
- Atypical Haemolytic Uraemic Syndrome_MPGN
History Filter Activity
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: cfh has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cfh has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CFH were changed from to Complement factor H deficiency, MIM#609814
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 Alport syndrome extended_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFH was set to Unknown