Genomics England
GMS Panels
Panels
Genes and Entities

DNAJC12

DnaJ heat shock protein family (Hsp40) member C12
OMIM: 606060
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384, Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384