Complement Deficiencies

Gene: CFH

Green List (high evidence)

For aHUS (predisposition):
Typically AD (gene reviews)

For AD Basal laminar drusen MIM#126700:
>3 families where rare heterozygous CFH variants segregate with age-related macular degeneration and cuticular drusen.

For complement deficiency:
Typically AD, likely that AR leads to a more severe phenotype

variants associated with the eye disease are mostly located in the N-terminal region, whereas variants associated with the renal disease are clustered in (but not limited to) the C-terminal

Created: 19 Apr 2022, 1:29 a.m. | Last Modified: 19 Apr 2022, 1:29 a.m.

Panel Version: 0.13058

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Basal laminar drusen MIM#126700; Complement factor H deficiency MIM#609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400

Publications

• 27572114
• 25814826
• 20301541
• 9312129
• 10803850
• 29888403
• 30905644

Variants in this GENE are reported as part of current diagnostic practice