PDK3

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green PDK3 in Mendeliome Version 1.3512	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 Review Green Expert list Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905 HMSN
Green PDK3 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	3 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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905
Green PDK3 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	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 Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905 HMSN

3 panels