Genomics England

polo like kinase 4

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
Green in Retinal disorders R-numbers: R32 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171, microcephaly and chorioretinopathy 2, MONDO:0014516
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MCPH, primary microcephaly, Microcephaly and chorioretinopathy, autosomal recessive, 2, MCCRP2, Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171