WNK3

WNK lysine deficient protein kinase 3
OMIM: 300358
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
WNK3-related neurodevelopmental disorder, Prieto syndrome, OMIM:309610
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Prieto syndrome, OMIM:309610, Intellectual disability, MONDO:0001071
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Prieto syndrome, OMIM:309610, Intellectual disability, MONDO:0001071