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| Congenital hypothyroidism v0.91 | DUOX1 |
Chirag Patel edited their review of gene: DUOX1: Added comment: PMID 31428054: 1 individual with congenital hypothyroidism with heterozygous missense variant in DUOX1 (p.R1307Q). No segregation testing and variant is too common in gnomAD. HeLa cell overexpression of the p.R1307Q mutant showed reduced DUOX1 mRNA, protein and H₂O₂ production. PMID 27373559: 1 individual with congenital hypothyroidism with heterozygous missense variant in DUOX1 (p.P219L). No segregation testing and no functional testing, and variant is too common in gnomAD. PMID 33631011: 14 individuals with congenital hypothyroidism with DUOX1 variants (13 missense, 1 nonsense), BUT no information on individual phenotypes, segregation data, or functional validation.; Changed rating: RED; Changed publications: 31428054, 27373559, 33631011:; Changed phenotypes: Congenital hypothyroidism, MONDO:0018612; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Congenital hypothyroidism v0.45 | DUOX1 | Bryony Thompson Publications for gene: DUOX1 were set to PMID: 29650690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.44 | DUOX1 | Bryony Thompson Classified gene: DUOX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.44 | DUOX1 | Bryony Thompson Gene: duox1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.43 | DUOX1 | Bryony Thompson reviewed gene: DUOX1: Rating: RED; Mode of pathogenicity: None; Publications: 29650690, 28633507; Phenotypes: congenital hypothyroidism MONDO:0018612; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.21 | DUOX1 | Zornitza Stark Marked gene: DUOX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.21 | DUOX1 | Zornitza Stark Gene: duox1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.14 | DUOX1 | Chirag Patel Classified gene: DUOX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.14 | DUOX1 | Chirag Patel Gene: duox1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.13 | DUOX1 |
Chirag Patel gene: DUOX1 was added gene: DUOX1 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DUOX1 were set to PMID: 29650690 Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM # Added comment: 11 cases, but digenic model, with variants in other genes Sources: Literature |
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