Skeletal Dysplasia_Fetal

Gene: CEP120

Green List (high evidence)

At least three families with SRTD. Functional data. Polydactyly is part of the phenotype. Note variants in this gene also cause Joubert syndrome without multi-system involvement.

Created: 27 Jun 2021, 5:29 a.m. | Last Modified: 27 Jun 2021, 5:29 a.m.

Panel Version: 0.71

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300

Publications

• 25361962
• 27208211

Green List (high evidence)

Pathogenic CEP120 variants have been reported in recessive ciliopathies, namely Short-rib thoracic dysplasia 13 with or without polydactyly (MIM 616300) and Joubert syndrome 31 (MIM 617761).

The former is associated with a severe/lethal outcome (4 unrelated infants described by Shaheen et al 2015 - PMID: 25361962, 2 fetuses reported by Roosing et al 2016 - PMID: 27208211).

Roosing et al however, also provided details on 4 unrelated subjects with Joubert syndrome diagnosis. All presented with a neurologic phenotype of hypotonia, DD, cognitive impairment and exhibited a molar tooth sign.

As a result, this gene can be considered for inclusion in the ID panel with green rating (>3 individuals/variants, consistent ciliopathy phenotype).
Sources: Literature

Created: 13 Jul 2020, 6:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 31 (MIM 617761); Short-rib thoracic dysplasia 13 with or without polydactyly (MIM 616300)

Publications

• 27208211

I don't know

only 1 family reported in literature with renal phenotype for this ciliopathy.

Created: 3 Jan 2020, 3:49 a.m. | Last Modified: 3 Jan 2020, 3:49 a.m.

Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 31, OMIM #617761; Short-rib thoracic dysplasia 13 with or without polydactyly, OMIM #616300

Publications

• PMID: 25361962