DNAJC12

DnaJ heat shock protein family (Hsp40) member C12
OMIM: 606060
PanelMode of inheritanceDetails
3 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
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
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384, Hyperphenylalaninemia, Dystonia, and Intellectual Disability