Skeletal dysplasia
Gene: CEP120
There are enough cases with specific skeletal phenotype (short rib thoracic dysplasia +/- polydactyly) to call greenCreated: 18 Apr 2019, 1:51 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, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 13 with or without polydactyly 616300; Joubert syndrome 213300
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CEP120; Initial rating suggestion: NONE GIVEN, so given Amber rating when first uploading reviews from Tracy Lester.Created: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. Only one variant reported in Short-rib thoracic dysplasia 13 with or without polydactyly (616300) and 8 novel variants in Joubert syndrome (213300)Created: 28 Jul 2016, 8:20 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 13 with or without polydactyly 616300
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Joubert syndrome 213300; Short-rib thoracic dysplasia 13 with or without polydactyly 616300 for gene: CEP120 Publications for gene CEP120 were changed from 27208211; 27208211 to 27208211
Source NHS GMS was added to CEP120. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for CEP120 were set to 27208211; 27208211
Promoted to version 1 9th August 2016
Phenotypes for CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly 616300; Joubert syndrome 213300
Publications for CEP120 were set to 27208211
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly 616300
Mode of inheritance for CEP120 was changed to BIALLELIC, autosomal or pseudoautosomal
CEP120 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,UKGTN
CEP120 was added to Unexplained skeletal dysplasiapanel. Sources:
CEP120 was created by sleigh