Skeletal Dysplasia_Fetal
Gene: CEP120
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
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: LiteratureCreated: 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
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
Gene: cep120 has been classified as Green List (High Evidence).
Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Publications for gene: CEP120 were set to
Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CEP120 was added gene: CEP120 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CEP120 was set to Unknown