PLK4

polo like kinase 4
OMIM: 605031, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green PLK4 in Severe microcephaly Level 2: Neurology Version 9.26 Latest signed off version: v9.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Other Expert list Phenotypes MCPH primary microcephaly Microcephaly and chorioretinopathy, autosomal recessive, 2 MCCRP2 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171
Red PLK4 in Respiratory ciliopathies including non-CF bronchiectasis Level 2: Respiratory Version 5.4 Latest signed off version: v5.3 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Microcephaly and chorioretinopathy, autosomal recessive 2 OMIM:616171 microcephaly and chorioretinopathy 2 MONDO:0014516
Red PLK4 in Skeletal dysplasia Level 2: Musculoskeletal Version 10.5 Latest signed off version: v10.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Phenotypes Microcephalic primordial dwarfism
Green PLK4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
Green PLK4 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171
Amber PLK4 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.57	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 microcephaly and chorioretinopathy 2, MONDO:0014516 Tags watchlist
Green PLK4 in Intellectual disability Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
Green PLK4 in Retinal disorders Level 2: Ophthalmology Version 9.19 Latest signed off version: v9.14 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 microcephaly and chorioretinopathy 2, MONDO:0014516
Amber PLK4 in Structural eye disease Level 2: Ophthalmology Version 5.8 Latest signed off version: v5.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 microcephaly and chorioretinopathy 2, MONDO:0014516 Tags watchlist
Green PLK4 in Monogenic short stature Level 2: Endocrinology Version 2.9 Latest signed off version: v2.8 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171