Genomics England

SLC16A2

solute carrier family 16 member 2

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.5	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.7	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green in Congenital hypothyroidism R-numbers: R145 Signed-off version 2.23	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523
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 7.54	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Green in Hyperthyroidism R-numbers: R182 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.9	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease, Monocarboxylate transporter 8 deficiency (MCT8)