Renal Ciliopathies and Nephronophthisis
Gene: CEP120EnsemblGeneIds (GRCh38): ENSG00000168944
EnsemblGeneIds (GRCh37): ENSG00000168944
OMIM: 613446, Gene2Phenotype
CEP120 is in 12 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Renal cysts described in this ciliopathy.Created: 30 Dec 2019, 10:52 p.m. | Last Modified: 30 Dec 2019, 10:52 p.m.
Panel Version: 0.26
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Details
- Mode of Inheritance
- 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
- OMIM
- 613446
- Clinvar variants
- Variants in CEP120
- Penetrance
- None
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Mendeliome
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: cep120 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cep120 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CEP120 was added gene: CEP120 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: CEP120 was set to Unknown