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Intellectual disability syndromic and non-syndromic

Gene: CEP152

Green List (high evidence)

CEP152 (centrosomal protein 152)
EnsemblGeneIds (GRCh38): ENSG00000103995
EnsemblGeneIds (GRCh37): ENSG00000103995
OMIM: 613529, Gene2Phenotype
CEP152 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. ID is a feature of both disorders. Gene encodes centriole protein.
Created: 27 Mar 2021, 11:26 p.m. | Last Modified: 27 Mar 2021, 11:26 p.m.
Panel Version: 0.3550

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microcephaly 9, primary, autosomal recessive, MIM# 614852
  • MONDO:0013923
  • Seckel syndrome 5, MIM# 613823
  • MONDO:0013443
OMIM
613529
Clinvar variants
Variants in CEP152
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep152 has been classified as Green List (High Evidence).

27 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443

27 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CEP152 were set to

27 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP152 was added gene: CEP152 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP152 was set to Unknown