Rare multisystem ciliopathy disorders
Gene: CEP120Comment 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.
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
Variants in this GENE are reported as part of current diagnostic practice
Insufficient data currently - only two families with same homozgyous variantCreated: 19 Dec 2016, 5:09 p.m.
Phenotypes
616300
Publications
Gene: cep120 has been classified as Green List (High Evidence).
Publications for gene: CEP120 were set to 29847808
Gene: cep120 has been classified as Green List (High Evidence).
Gene: cep120 has been classified as Green List (High Evidence).
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Amber List (Moderate Evidence).
CEP120 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
CEP120 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
CEP120 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Phenotypes for gene CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly, 616300;Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
CEP120 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
CEP120 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
CEP120 was created by ellenmcdonagh