CEP120

centrosomal protein 120
OMIM: 613446, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green CEP120 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Green CEP120 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Joubert syndrome 31, MIM# 617761 Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Green CEP120 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Joubert syndrome 31, MIM# 617761
Green CEP120 in Mendeliome Version 2.588	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 31, MIM# 617761 Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Green CEP120 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.20 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Green CEP120 in Skeletal Ciliopathies Level 2: Skeletal disorders Version 2.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Amber CEP120 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.2 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Green CEP120 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 31 (MIM 617761) Short-rib thoracic dysplasia 13 with or without polydactyly (MIM 616300)
Green CEP120 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.151	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes Joubert syndrome 213300 Short-rib thoracic dysplasia 13 with or without polydactyly 616300
Green CEP120 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.157 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 31, MONDO:0033310
Green CEP120 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
Green CEP120 in Fetal anomalies Version 2.81	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Joubert syndrome 31, MIM# 617761 Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Green CEP120 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 31, MIM# 617761 Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300