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Congenital hypothyroidism v0.5 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Congenital hypothyroidism v0.5 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.5 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from MENTAL RETARDATION AND MUSCULAR ATROPHY; T3 RESISTANCE; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Monocarboxylate transporter 8 (MCT8) defect; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; TRIIODOTHYRONINE RESISTANCE; AHDS; Allan_Herndon_Dudley Syndrome; ALLAN-HERNDON SYNDROME; mental retardation, X-linked, with hypotonia; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON-DUDLEY SYNDROME; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523 to Allan-Herndon-Dudley syndrome, MIM# 300523
Congenital hypothyroidism v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
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 AND MUSCULAR ATROPHY; T3 RESISTANCE; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Monocarboxylate transporter 8 (MCT8) defect; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; TRIIODOTHYRONINE RESISTANCE; AHDS; Allan_Herndon_Dudley Syndrome; ALLAN-HERNDON SYNDROME; mental retardation, X-linked, with hypotonia; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON-DUDLEY SYNDROME; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523