PNKP

polynucleotide kinase 3'-phosphatase
OMIM: 605610, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green PNKP in Ataxia and cerebellar anomalies - narrow panel Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia with oculomotor apraxia 4 (#616267)
Green PNKP in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ataxia with oculomotor apraxia 4 (#616267)
Green PNKP 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 UKGTN Radboud University Medical Center, Nijmegen Phenotypes Microcephaly, seizures, and developmental delay, 613402
Red PNKP in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ataxia with oculomotor apraxia 4 (#616267)
Green PNKP 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 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 ATAXIA-OCULOMOTOR APRAXIA 4
Green PNKP 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 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402 ATAXIA-OCULOMOTOR APRAXIA 4 616267
Green PNKP in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes ?Charcot-Marie-Tooth disease, type 2B2 605589 Ataxia-oculomotor apraxia 4 OMIM:616267 Microcephaly, seizures, and developmental delay OMIM:613402
Green PNKP in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Early infantile epileptic encephalopathy type 10 Ataxia-oculomotor apraxia 4 Microcephaly, seizures, and developmental delay
Green PNKP 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 Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 10, 613402 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
Green PNKP in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Microcephaly, seizures and developmental delay, 613402 Ataxia-oculomotor apraxia 4, 616267 Ataxia with oculomotor apraxia 4 (#616267)
Green PNKP in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH 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 PNKP in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Ataxia-oculomotor apraxia 4, 616267 Microcephaly, seizures, and developmental delay, 613402
Green PNKP in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Microcephaly, seizures, and developmental delay, 613402 Ataxia-oculomotor apraxia 4, 616267