Retinal disordersGene: PLK4
Three unrelated families reported.
Created: 13 Oct 2020, 7:29 a.m. | Last Modified: 13 Oct 2020, 7:29 a.m.
Panel Version: 2.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Created: 8 Jan 2021, 10:02 a.m. | Last Modified: 8 Jan 2021, 10:02 a.m.
Panel Version: 2.106
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Tag for-review was removed from gene: PLK4.
Source Expert Review Green was added to PLK4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: PLK4.
Mode of inheritance for gene: PLK4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLK4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171; microcephaly and chorioretinopathy 2, MONDO:0014516
Publications for gene: PLK4 were set to
gene: PLK4 was added gene: PLK4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PLK4 was set to