White matter disorders and cerebral calcification - narrow panel
Gene: SLC16A2Phenotypes for gene: SLC16A2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Monocarboxylate transporter 8 deficiency (MCT8); Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, OMIM:300523; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Monocarboxylate transporter 8 deficiency (MCT8)
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: SLC16A2 was added gene: SLC16A2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SLC16A2 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_524 Phenotypes for gene: SLC16A2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Monocarboxylate transporter 8 deficiency (MCT8); Allan-Herndon-Dudley syndrome