Genomics England

PNKP

polynucleotide kinase 3'-phosphatase

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia with oculomotor apraxia 4 (#616267)
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia-oculomotor apraxia 4, 616267, Microcephaly, seizures, and developmental delay, 613402
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402, ATAXIA-OCULOMOTOR APRAXIA 4 616267
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Early infantile epileptic encephalopathy type 10, Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10, ATAXIA-OCULOMOTOR APRAXIA 4
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, seizures and developmental delay, 613402, Ataxia-oculomotor apraxia 4, 616267, Ataxia with oculomotor apraxia 4 (#616267)
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy, Microcephaly, seizures, and developmental delay, 613402, Ataxia-oculomotor apraxia 4, 616267
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 Epileptic encephalopathy, early infantile, 10, 613402, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, seizures, and developmental delay, 613402