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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

1 review

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

Created: 19 Nov 2024, midnight
Last Modified: 19 Nov 2024, midnight
Panel version: 0.39

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