SLC16A2

solute carrier family 16 member 2
OMIM: 300095
PanelMode of inheritanceDetails
9 panels
R-numbers: R57
Signed-off version 2.6
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Allan-Herndon-Dudley syndrome, OMIM:300523
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 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523
R-numbers: R21, R412
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
R-numbers: R59
Signed-off version 3.1
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
R-numbers: R61
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Allan-Herndon-Dudley syndrome, OMIM:300523
R-numbers: R182
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Allan-Herndon-Dudley syndrome, OMIM:300523
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Allan-Herndon-Dudley syndrome, OMIM:300523
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
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)