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| Congenital hypothyroidism v0.120 | IYD | Chirag Patel Phenotypes for gene: IYD were changed from Thyroid dyshormonogenesis 4, MIM# 274800 to Thyroid dyshormonogenesis 4, MIM# 274800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.119 | IYD | Chirag Patel Phenotypes for gene: IYD were changed from childhood/adolescent onset hypothyroidism; Thyroid dyshormonogenesis 4, 274800; normal iodide organification; Congenital hypothyroidism; raised urinary MIT and DIT; goitre to Thyroid dyshormonogenesis 4, MIM# 274800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.118 | IYD | Chirag Patel Mode of inheritance for gene: IYD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.117 | IYD | Chirag Patel Marked gene: IYD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.117 | IYD | Chirag Patel Gene: iyd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.117 | IYD | Chirag Patel reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 39106437, 36633921; Phenotypes: Thyroid dyshormonogenesis 4, MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.58 | Chirag Patel Added reviews for gene IYD from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.0 | IYD |
Zornitza Stark gene: IYD was added gene: IYD was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: IYD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IYD were set to 24629858 (Review); 18765512; PMID:18434651 (Moreno et al., 2008): 2 missense mutations and a 3bp deletion were identified in 4 patients with hypothryoidism from 3 unrelated families; PMID:22535972 (Burniat et al., 2012) identified a homozygous IYD mutation in a child born to first-cousins. A 4.5-yr-old unaffected sister was found homozygous for the mutation Phenotypes for gene: IYD were set to childhood/adolescent onset hypothyroidism; Thyroid dyshormonogenesis 4, 274800; normal iodide organification; Congenital hypothyroidism; raised urinary MIT and DIT; goitre |
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