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  3. CEP120
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Joubert syndrome and other neurological ciliopathies

Gene: CEP120

Green List (high evidence)
CEP120 (centrosomal protein 120)
EnsemblGeneIds (GRCh38): ENSG00000168944
EnsemblGeneIds (GRCh37): ENSG00000168944
OMIM: 613446, Gene2Phenotype
CEP120 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families with JBTS reported. Note variants in this gene also cause SRTD. Functional data.
Sources: Expert list
Created: 27 Mar 2021, 2:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 31, MIM# 617761

Publications

Created: 27 Mar 2021, 2:53 a.m.

Panel version: 1.1

History Filter Activity

27 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep120 has been classified as Green List (High Evidence).

27 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep120 has been classified as Green List (High Evidence).

27 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP120 was added gene: CEP120 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP120 were set to 27208211; 33486889; 29847808 Phenotypes for gene: CEP120 were set to Joubert syndrome 31, MIM# 617761 Review for gene: CEP120 was set to GREEN