Growth failure in early childhood
Gene: PLK4
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.
Panel Version: 1.100
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.
PMID: 25344692 describes 3 unrelated families with affected individuals who have biallelic variants in PLK4. All affected individuals have impaired growth/short stature. In one family 3 out of 7 affected individuals have an eye phenotype (ranging from microcornea, microphthalmia and cataract). Family 2 had retinopathy and family 3 did not have an eye exam performed.
PMID: 27650967 describes a case where the affected individual has bilateral microphthalmia and persistant hyperplastic primary vitreous of the left eye. The affected individual also has growth impairment.
PMID: 25320347 describes a case where the affected individuals have retinopathy and impaired growth.
There are >3 unrelated cases and therefore enough evidence to support a gene-disease association. This gene has been given an Amber rating and should be considered for Green status at the next review.
Sources: LiteratureCreated: 8 Jan 2021, 10:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171; microcephaly and chorioretinopathy 2, MONDO:0014516
Publications
Phenotypes for gene: PLK4 were changed from Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171; microcephaly and chorioretinopathy 2, MONDO:0014516 to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
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)
Gene: plk4 has been classified as Amber List (Moderate Evidence).
gene: PLK4 was added gene: PLK4 was added to Growth failure in early childhood. Sources: Literature for-review tags were added to gene: PLK4. Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLK4 were set to 25344692; 25320347; 27650967 Phenotypes for gene: PLK4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171; microcephaly and chorioretinopathy 2, MONDO:0014516 Review for gene: PLK4 was set to AMBER