Rare multisystem ciliopathy disorders

Gene: CEP120

Comment when marking as ready: Although only reported in two publications, 9 plausible pathogenic variants identified in 7 unrelated probands. Note that variant described in original publication shows evidence of founder effect, however functional evidence supports the pathogenicity of this variant.

Created: 3 Sep 2018, 6:38 a.m.

Comment on publications: Functional evidence for two variants.

Created: 3 Sep 2018, 6:35 a.m.

Comment on list classification: PMID:27208211 reports biallelic variants in 6 further unrelated probands with ciliopathy phenotypes. 9 variants are reported, of which 8 are novel. Two of these variants are predicted to result in loss of function (a frameshift and nonsense mutation); the remainder are a variant predicted to affect splicing and 6 missense variants. PMID:29847808 provides functional evidence that one of the missense variants (V194A) and the originally described variant (A199P) both affect the function of CEP120 in cilia formation.

Created: 3 Sep 2018, 6:34 a.m.

Green List (high evidence)

Please note additional families and variants reported.

Created: 3 Aug 2018, 6:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert Syndrome/Short-rib thoracic dysplasia with or without polydactyly

Publications

• 27208211

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

Insufficient data currently - only two families with same homozgyous variant

Created: 19 Dec 2016, 5:09 p.m.

Phenotypes
616300

Publications

• 25361962