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Hyperthyroidism

Gene: SLC16A2

Green List (high evidence)
SLC16A2 (solute carrier family 16 member 2)
EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 16 panels

1 review

Anna Le Fevre (Victorian Clinical Genetics Services)

Green List (high evidence)

Loss of function variants in SLC16A2 are associated with X-linked Allan-Herndon-Dudley syndrome, caused by a defect in thyroid hormone cell membrane transport. Affected males display a broad spectrum of neurocognitive phenotypes and abnormal thyroid function tests, including elevated FT3, low rT3, low/normal FT4 and normal/mildly elevated TSH.

Heterozygous females are generally asymptomatic. About 25% of heterozygous female have thyroid test abnormalities between those seen in affected and normal individuals, including elevated T3 levels. Gestational hypothyroxinaemia in a carrier female has been reported. Rare reports of females with neurocognitive impairment may be due to skewed X-chromosome inactivation.
Created: 28 Sep 2020, 4:58 a.m. | Last Modified: 28 Sep 2020, 4:58 a.m.
Panel Version: 0.8

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
#300523 ALLAN-HERNDON-DUDLEY SYNDROME

Publications

Created: 28 Sep 2020, 4:58 a.m.
Last Modified: 28 Sep 2020, 4:58 a.m.
Panel version: 0.8

History Filter Activity

28 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc16a2 has been classified as Green List (High Evidence).

28 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC16A2 were changed from MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; mental retardation, X-linked, with hypotonia; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON SYNDROME; T3 RESISTANCE; AHDS; ALLAN-HERNDON-DUDLEY SYNDROME; MENTAL RETARDATION AND MUSCULAR ATROPHY; Monocarboxylate transporter 8 (MCT8) defect; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan_Herndon_Dudley Syndrome to Allan-Herndon-Dudley syndrome, MIM# 300523

28 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC16A2 were set to 24847459

21 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC16A2 was added gene: SLC16A2 was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to 24847459 Phenotypes for gene: SLC16A2 were set to MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; mental retardation, X-linked, with hypotonia; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON SYNDROME; T3 RESISTANCE; AHDS; ALLAN-HERNDON-DUDLEY SYNDROME; MENTAL RETARDATION AND MUSCULAR ATROPHY; Monocarboxylate transporter 8 (MCT8) defect; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan_Herndon_Dudley Syndrome