1. Panels
  2. Microcephalic Primordial Dwarfism and Slender bone dysplasias
  3. CEP152
STRs in panel
Prev Next
Regions in panel
Prev Next

Microcephalic Primordial Dwarfism and Slender bone dysplasias

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)

At least three unrelated families reported. Note bi-allelic variants in this gene also cause isolated microcephaly.
Created: 13 Nov 2021, 1:07 a.m. | Last Modified: 13 Nov 2021, 1:07 a.m.
Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 5, MIM# 613823; MONDO:0013443

Publications

Created: 13 Nov 2021, 1:07 a.m.
Last Modified: 13 Nov 2021, 1:07 a.m.
Panel version: 0.19

History Filter Activity

13 Nov 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).

13 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEP152 were changed from to Seckel syndrome 5, MIM# 613823; MONDO:0013443

13 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CEP152 were set to

2 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Tiong Tan (Victorian Clinical Genetics Services)

gene: CEP152 was added gene: CEP152 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal