PNKP

polynucleotide kinase 3'-phosphatase
OMIM: 605610
PanelMode of inheritanceDetails
9 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with oculomotor apraxia 4 (#616267)
R-numbers: R57
Signed-off version 4.3
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402, ATAXIA-OCULOMOTOR APRAXIA 4 616267
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early infantile epileptic encephalopathy type 10, Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10, ATAXIA-OCULOMOTOR APRAXIA 4
R-numbers: R54
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, seizures and developmental delay, 613402, Ataxia-oculomotor apraxia 4, 616267, Ataxia with oculomotor apraxia 4 (#616267)
R-numbers: R78
Signed-off version 4.11
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 10, 613402, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, seizures, and developmental delay, 613402