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Intellectual disability syndromic and non-syndromic

Gene: CFHR1

Red List (low evidence)

CFHR1 (complement factor H related 1)
EnsemblGeneIds (GRCh38): ENSG00000244414
EnsemblGeneIds (GRCh37): ENSG00000244414
OMIM: 134371, Gene2Phenotype
CFHR1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Intellectual disability is not a feature.
Created: 27 Nov 2019, 1:12 a.m. | Last Modified: 27 Nov 2019, 1:12 a.m.
Panel Version: 0.8

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400
OMIM
134371
Clinvar variants
Variants in CFHR1
Penetrance
None
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr1 has been classified as Red List (Low Evidence).

7 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFHR1 were changed from to Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400

7 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfhr1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFHR1 was added gene: CFHR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CFHR1 was set to Unknown