PNKP

polynucleotide kinase 3'-phosphatase
OMIM: 605610
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with oculomotor apraxia 4 (#616267)
R-numbers: R57
Signed-off version 1.58
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402, ATAXIA-OCULOMOTOR APRAXIA 4 616267
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10, ATAXIA-OCULOMOTOR APRAXIA 4
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early infantile epileptic encephalopathy type 10, Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, seizures and developmental delay, 613402, Ataxia-oculomotor apraxia 4, 616267, Ataxia with oculomotor apraxia 4 (#616267)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 10, 613402, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, seizures, and developmental delay, 613402