rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.
|
27672545 |
2016 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
|
25644381 |
2016 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Inherited defects in thyroid hormone cell-membrane transport and metabolism.
|
24629861 |
2014 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic disorders of thyroid metabolism and brain development.
|
24665922 |
2014 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
|
22805248 |
2013 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.
|
23550058 |
2013 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment.
|
21896621 |
2011 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.
|
21098685 |
2011 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.
|
20628049 |
2010 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
|
20655035 |
2010 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
|
18398436 |
2008 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
|
15889350 |
2005 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
|
14661163 |
2004 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.
|
12871948 |
2003 |
rs587784384
|
Entrez Id: |
6567 |
Gene Symbol: |
SLC16A2 |
SLC16A2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Allan-Herndon syndrome. I. Clinical studies.
|
2393019 |
1990 |