Microcephaly
Gene: PLK4EnsemblGeneIds (GRCh38): ENSG00000142731
EnsemblGeneIds (GRCh37): ENSG00000142731
OMIM: 605031, Gene2Phenotype
PLK4 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 3 unrelated families reported with autosomal recessive developmental disorder characterised by delayed psychomotor development, visual impairment, and microcephaly.
Sources: Expert listCreated: 3 Sep 2020, 2:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171
- OMIM
- 605031
- Clinvar variants
- Variants in PLK4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plk4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plk4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PLK4 was added gene: PLK4 was added to Microcephaly. Sources: Expert list 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, MIM# 616171 Review for gene: PLK4 was set to GREEN