Cerebral vascular malformations

Gene: CEP152

Red List (low evidence)

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

There is linkage between Seckel Syndrome and MoyaMoya however no reported cases with pathogenic variants in CEP152.
Created: 19 Nov 2024, midnight | Last Modified: 19 Nov 2024, midnight
Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome MONDO:0019342

Publications

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. Gene encodes centriole protein.
Created: 27 Mar 2021, 11:21 p.m. | Last Modified: 27 Mar 2021, 11:21 p.m.
Panel Version: 0.6931

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

History Filter Activity

30 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cep152 has been classified as Red List (Low Evidence).

30 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cep152 has been classified as Red List (Low Evidence).

18 May 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP152 was added gene: CEP152 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP152 were set to 21131973 Phenotypes for gene: CEP152 were set to Seckel syndrome 5 613823