Variant: rs1555979596 

    present in Gene: LOC105373252;SLC16A2
    present in Chromosome: X
    Position on Chromosome: 74421994
    Alleles of this Variant: CT/-

rs1555979596 in LOC105373252;SLC16A2 gene and Multiple congenital anomalies PMID 18398436 2008 MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

PMID 21896621 2011 A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment.

PMID 2393019 1990 Allan-Herndon syndrome. I. Clinical studies.

PMID 27672545 2016 Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 15889350 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

PMID 23550058 2013 Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.

PMID 22805248 2013 MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

PMID 24629861 2014 Inherited defects in thyroid hormone cell-membrane transport and metabolism.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 20628049 2010 Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.

PMID 14661163 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

PMID 24665922 2014 Genetic disorders of thyroid metabolism and brain development.

PMID 21098685 2011 Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

PMID 12871948 2003 Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.