WDR45

WD repeat domain 45
OMIM: 300526, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green WDR45 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 5 MIM#300894
Green WDR45 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Expert Review Green Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148
Green WDR45 in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	Other	Sources Expert list Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894
Amber WDR45 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Amber Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894
Green WDR45 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 5, OMIM # 300894
Green WDR45 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 2.0	0 reviews	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 2.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert list Expert Review Green 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 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green WDR45 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Royal Melbourne Hospital Expert Review Green 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 2.0	1 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 GeneReviews Phenotypes Beta-propeller protein-associated neurodegeneration (BPAN)
Green WDR45 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894