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 3.56	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 4.28	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 2.2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MENTAL RETARDATION AND MUSCULAR ATROPHY, MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency, monocarboxylate transporter 8 (MCT8) deficiency, ALLAN-HERNDON SYNDROME, Monocarboxylate transporter 8 (MCT8) defect, Allan-Herndon-Dudley syndrome, AHDS, MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA, Allan_Herndon_Dudley Syndrome, mental retardation, X-linked, with hypotonia, MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY, Allan-Herndon-Dudley Syndrome, T3 RESISTANCE, TRIIODOTHYRONINE RESISTANCE, 300523, Allan-Herndon-Dudley syndrome, 300523, ALLAN-HERNDON-DUDLEY SYNDROME
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	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 4.134	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 3.122	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 5.343	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 3.24	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)