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Fetal anomalies v0.4381 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Fetal anomalies v0.4381 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4381 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY to Allan-Herndon-Dudley syndrome, MIM# 300523
Fetal anomalies v0.4380 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Fetal anomalies v0.4379 SLC16A2 Zornitza Stark Classified gene: SLC16A2 as Amber List (moderate evidence)
Fetal anomalies v0.4379 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4378 SLC16A2 Zornitza Stark edited their review of gene: SLC16A2: Added comment: Clinical presentation is typically post-natal, including microcephaly of post-natal onset.; Changed rating: AMBER
Fetal anomalies v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Fetal anomalies. 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
Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY