GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CEP120Comment on list classification: Changed rating to green, as Tracy Lester confirmed that it should have a green rating.Created: 18 Apr 2019, 1:55 p.m.
There are enough cases with specific skeletal phenotype (short rib thoracic dysplasia +/- polydactyly) to call greenCreated: 18 Apr 2019, 1:53 p.m.
Neither disorder listed in SD Nosology paper. AR. 616300 - 4 cases reported by Shaheen et al 2015, with 2 more cases reported 2016. All fetal. Gene also associated with Joubert syndrome type 31.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 13 with or without polydactyly 616300; Joubert syndrome 213300
Publications
Gene: cep120 has been classified as Green List (High Evidence).
gene: CEP120 was added gene: CEP120 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP120 were set to Joubert syndrome 213300; Short-rib thoracic dysplasia 13 with or without polydactyly 616300