Genomics England

WDR45

WD repeat domain 45

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.12	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 Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.41	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
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	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 3.79	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 Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.134	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 Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	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 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 4.78	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