| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperthyroidism v0.14 | SLC16A2 | Zornitza Stark Marked gene: SLC16A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.14 | SLC16A2 | Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.14 | SLC16A2 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.13 | SLC16A2 | Zornitza Stark Publications for gene: SLC16A2 were set to 24847459 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.8 | SLC16A2 | Anna Le Fevre reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25517855, 21098685, 31410843; Phenotypes: #300523 ALLAN-HERNDON-DUDLEY SYNDROME; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.0 | SLC16A2 |
Zornitza Stark 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 |
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