Congenital adrenal hypoplasiaGene: POLE
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore, enough evidence to support a gene-disease association. This gene should be Green at the next review.
This gene was also proposed to be added and given Green status by Soo-Mi Park (East Anglian Medical Genetics Service).
Sources: Expert Review
Created: 28 Jan 2021, 1:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
IMAGE-I syndrome, OMIM:618336
Gene: pole has been classified as Amber List (Moderate Evidence).
gene: POLE was added gene: POLE was added to Congenital adrenal hypoplasia. Sources: Expert Review for-review tags were added to gene: POLE. Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 14760276; 30503519 Phenotypes for gene: POLE were set to IMAGE-I syndrome, OMIM:618336 Review for gene: POLE was set to GREEN