PLK4

polo like kinase 4
OMIM: 605031, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green PLK4 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Phenotypes Microcephalic primordial dwarfism
Green PLK4 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
Green PLK4 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 1.51	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 Growth failure in early childhood Version 3.88 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
Green PLK4 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant 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 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	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 Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171