SLC16A2

solute carrier family 16 member 2
OMIM: 300095, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SLC16A2 in Hyperthyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 3.4 Latest signed off version: v3.0 (30 Nov 2022)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Eligibility statement prior genetic testing Other Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Literature Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 Tags treatable
Green SLC16A2 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	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 Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 General Leukodystrophy & Mitochondrial Leukoencephalopathy Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease Monocarboxylate transporter 8 deficiency (MCT8)
Green SLC16A2 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	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 Expert list Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 General Leukodystrophy & Mitochondrial Leukoencephalopathy Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease Monocarboxylate transporter 8 deficiency (MCT8)
Green SLC16A2 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green SLC16A2 in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Amber SLC16A2 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Red SLC16A2 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green SLC16A2 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Green SLC16A2 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523
Green SLC16A2 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	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 Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services UKGTN Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green SLC16A2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green SLC16A2 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 2.18 Latest signed off version: v2.2 (25 Feb 2020)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 Tags treatable
Green SLC16A2 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523
Green SLC16A2 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Allan-Herndon-Dudley syndrome, 300523