Skeletal dysplasia

Gene: CEP120

Green List (high evidence)

There are enough cases with specific skeletal phenotype (short rib thoracic dysplasia +/- polydactyly) to call green

Created: 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 Lester

Created: 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

• 27208211
• 27208211

I don't know

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.

Green List (high evidence)

Tier 1

Created: 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