1. Panels
  2. Microcephalic Primordial Dwarfism and Slender bone dysplasias
  3. CENPE
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Microcephalic Primordial Dwarfism and Slender bone dysplasias

Gene: CENPE

Red List (low evidence)
CENPE (centromere protein E)
EnsemblGeneIds (GRCh38): ENSG00000138778
EnsemblGeneIds (GRCh37): ENSG00000138778
OMIM: 117143, Gene2Phenotype
CENPE is in 4 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 24748105;
- 2 siblings from non-consanguineous family of European descent
- patient A: at birth, OFC of -5SD which progressed to -9SD at 5 years of age
- patient B: no measurement at birth but OFC was -7SD at 3 years of age
- cHet for 2 missense

*no new reports since. A review of AR primary microcephaly in 2018 still states just 1 family (PMID: 30086807)
Created: 2 Sep 2020, 6:19 a.m. | Last Modified: 2 Sep 2020, 6:19 a.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 13, primary, autosomal recessive (MIM#616051)

Publications

Created: 2 Sep 2020, 6:19 a.m.
Last Modified: 2 Sep 2020, 6:19 a.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 13, primary, autosomal recessive (MIM#616051)
OMIM
117143
Clinvar variants
Variants in CENPE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

2 Sep 2020, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: CENPE were changed from to Microcephaly 13, primary, autosomal recessive (MIM#616051)

2 Sep 2020, Gel status: 1

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: CENPE were set to

2 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

2 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Tiong Tan (Victorian Clinical Genetics Services)

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