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| Disorders of immune dysregulation v1.43 | DUOXA1 | Bryony Thompson Marked gene: DUOXA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.43 | DUOXA1 | Bryony Thompson Gene: duoxa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.43 | DUOXA1 | Bryony Thompson Phenotypes for gene: DUOXA1 were changed from congenital hypothyroidism MONDO:0018612 to Inborn error of immunity, MONDO:0003778 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.42 | DUOXA1 | Bryony Thompson Mode of inheritance for gene: DUOXA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.41 | DUOXA1 | Bryony Thompson edited their review of gene: DUOXA1: Changed publications: 36166305; Changed phenotypes: Inborn error of immunity, MONDO:0003778; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.41 | Bryony Thompson Copied gene DUOXA1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.41 | DUOXA1 |
Bryony Thompson gene: DUOXA1 was added gene: DUOXA1 was added to Disorders of immune dysregulation. Sources: Expert Review Amber,Expert Review Mode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DUOXA1 were set to 29650690; 39988947; 36740391; 31428054 Phenotypes for gene: DUOXA1 were set to congenital hypothyroidism MONDO:0018612 |
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