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Growth failure in early childhood

Gene: PLK4

Green List (high evidence)
PLK4 (polo like kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000142731
EnsemblGeneIds (GRCh37): ENSG00000142731
OMIM: 605031, Gene2Phenotype
PLK4 is in 10 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

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: Literature
Created: 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

Created: 8 Jan 2021, 10:25 a.m.

Panel version: 1.100

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
OMIM
605031
Clinvar variants
Variants in PLK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

3 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: PLK4.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PLK4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: plk4 has been classified as Amber List (Moderate Evidence).

8 Jan 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

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