WDR45

WD repeat domain 45
OMIM: 300526, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green WDR45 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Neurodegeneration with brain iron accumulation 5 MIM#300894
Green WDR45 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148
Green WDR45 in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10	review	Other	Sources Expert Review Green Expert list Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894
Amber WDR45 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.96 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894
Green WDR45 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Neurodegeneration with brain iron accumulation 5, OMIM # 300894
Green WDR45 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 5 300894 Rett syndrome Rett-like phenotypes
Green WDR45 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Disorders of autophagy X-linked complex neurodevelopmental disorder MONDO:0100148
Green WDR45 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894 Rett syndrome Rett-like phenotypes
Green WDR45 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green WDR45 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148 neurodegeneration with brain iron accumulation 5 MONDO:0010476
Green WDR45 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodegeneration with brain iron accumulation 5 300894 beta-propeller protein-associated neurodegeneration Dystonia
Green WDR45 in Neurodegeneration with brain iron accumulation Level 2: Neurology and neurodevelopmental disorders Version 0.35 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources GeneReviews Expert Review Green Phenotypes Beta-propeller protein-associated neurodegeneration (BPAN)
Green WDR45 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894
Red WDR45 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Genomics England PanelApp Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894 Rett syndrome Rett-like phenotypes