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

Gene: POLE

Green List (high evidence)
POLE (DNA polymerase epsilon, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 11 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY MIM 618336
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: POLE was added gene: POLE was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to PMID: 30503519 Phenotypes for gene: POLE were set to INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY MIM 618336