Genomics England
GMS Panels
Panels
Genes and Entities

CISD2

CDGSH iron sulfur domain 2
OMIM: 611507
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WOLFRAM SYNDROME TYPE 2 604928
Green
in Likely inborn error of metabolism
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 2 604928
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 2604928
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hearing loss, Wolfram syndrome 2, OMIM:604928
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WOLFRAM SYNDROME 2, 604928