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Fetal anomalies

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)
Sources: Literature
Created: 28 Feb 2022, 2:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
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

28 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Feb 2022, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CENPE was added gene: CENPE was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CENPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPE were set to 24748105; 30086807 Phenotypes for gene: CENPE were set to Microcephaly 13, primary, autosomal recessive (MIM#616051) Review for gene: CENPE was set to RED gene: CENPE was marked as current diagnostic