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| Congenital hypothyroidism v2.11 | SLC26A7 | Eleanor Williams Tag gene-checked tag was added to gene: SLC26A7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.27 | SLC26A7 | Ivone Leong Classified gene: SLC26A7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.27 | SLC26A7 |
Ivone Leong Added comment: Comment on list classification: Promoted from red to green. SLC26A7 is not associated with a phenotype in OMIM or Gene2Phenotype; however, there is enough evidence to support promoting this gene to green status. PMID: 29546359 describes a Saudi Arabian family with 2 affected daughters who are homozygous for two tandem SLC26A7 deletions (located next to each other). Slc26a7 knockout mice exhibit hypothyroidism and hyperplastic thyroid changes. PMID: 30333321 describes 6 families with congenital hypothyroidism. 2 Pakistani families with consanguineous parents, 1 Turkish family with consanguineous parents and 3 Finnish families with non-consanguineous parents. The Pakistani and Turkish families have the same homozygous nonsense variant and the Finnish families have the same homozygous frameshift variant. The study also included a Slc26a7-null mouse model that exhibited hypothyoidism phenotype. |
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| Congenital hypothyroidism v1.27 | SLC26A7 | Ivone Leong Gene: slc26a7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.26 | SLC26A7 | Ivone Leong Publications for gene: SLC26A7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.20 | SLC26A7 | Nadia Schoenmakers reviewed gene: SLC26A7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary congenital hypothyroidism (dyshormonogenesis), OMIM 608479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.19 | SLC26A7 |
Ivone Leong gene: SLC26A7 was added gene: SLC26A7 was added to Congenital hypothyroidism. Sources: East of England GLH Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A7 were set to Primary congenital hypothyroidism (dyshormonogenesis) |
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