Thoracic dystrophies
Gene: CEP120Comment on list classification: Two green reviews, and >3 families/cases reported. Is green on the Unexplained skeletal dysplasia Version 1.32 gene panel.Created: 26 May 2017, 9:41 a.m.
Phenotypes
JATD/JBTS/OFD
Phenotypes
JATD/JBTS/OFD
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Phenotypes for CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly 616300;ORPHA:474 Jeune syndrome;ORPHA:475 Joubert syndrome;ORPHA:220493 Joubert syndrome with ocular defect
This gene has been classified as Green List (High Evidence).
Publications for CEP120 were set to 25361962; 27208211
This gene has been classified as Green List (High Evidence).
Phenotypes for CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly 616300
Publications for CEP120 were set to 25361962
Mode of inheritance for CEP120 was changed to BIALLELIC, autosomal or pseudoautosomal
This proposed gene was validated and added to this panel
This proposed gene was validated and added to this panel
CEP120 was added to Thoracic dystrophiespanel. Sources: Expert Review
CEP120 was created by hmitchis