Genomics England
GMS Panels
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Genes and Entities

WDR45

WD repeat domain 45
OMIM: 300526
PanelMode of inheritanceDetails
7 panels
Green
in Adult onset movement disorder
R-numbers: R56
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Neurodegeneration with brain iron accumulation 5, OMIM:300894
Green
in Childhood onset dystonia or chorea or related movement disorder
R-numbers: R57
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Neurodegeneration with brain iron accumulation 5 300894, beta-propeller protein-associated neurodegeneration, Dystonia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Neurodegeneration with brain iron accumulation 5, 300894
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Neurodegeneration with brain iron accumulation 5
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Neurodegeneration with brain iron accululation 5, 300894, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA)
Green
in Neurodegenerative disorders - adult onset
R-numbers: R58
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Dystonia, Neurodegeneration with brain iron accumulation 5, OMIM:300894