Gene Symbol:
CFH
HGNC:4883
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q31.3
Filters:

Definitive classifications

atypical hemolytic-uremic syndrome
SD
07/02/2023
Evaluated
10/18/2023
Submitted

Strong classifications

basal laminar drusen
Submitted as: OMIM:126700
AD
01/19/2023
Evaluated
08/19/2023
Submitted
hemolytic uremic syndrome, atypical, susceptibility to, 1
Submitted as: OMIM:235400
AD
02/10/2023
Evaluated
11/30/2023
Submitted
complement factor H deficiency
Submitted as: OMIM:609814
AR
12/15/2018
Evaluated
11/30/2023
Submitted

Moderate classifications

hemolytic uremic syndrome, atypical, susceptibility to, 1
Submitted as: OMIM:235400
AD
01/20/2023
Evaluated
08/19/2023
Submitted
complement factor H deficiency
Submitted as: OMIM:609814
AR
01/20/2023
Evaluated
08/19/2023
Submitted

Supportive classifications

Doyne honeycomb retinal dystrophy
Submitted as: Orphanet:75376
AD
09/14/2021
Evaluated
09/14/2021
Submitted
dense deposit disease
Submitted as: Orphanet:93571
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

basal laminar drusen
Submitted as: OMIM:126700
Unknown
03/03/2020
Evaluated
11/30/2023
Submitted

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