Rare multisystem ciliopathy disorders

Gene: CFAP44

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least one frame shift terminating variant reported in a homozygote patient,whose parents were both heterozygous for the same variant. This variant not reported in 984 ethnically matched controls, but was detected in the ExAC database at a frequency of 8.3 x 10(-6).

Created: 21 Aug 2017, 12:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spermatogenic failure 20 617593

Publications

• 28552195