Congenital hypothyroidism
Gene: DUOX1
Very limited genetic evidence for a gene-disease association with congenital hypothyroidism
PMID: 29650690 - 11 variants reported in 11 CH cases, 5 with bialleic DUOX2 that would explain phenotype, 1 in cis with a LP DUOX2 variant, 2 LB, 1 heterozygous splice site variant & 2 het missense would be VUS or borderline LB. The authors conducted a gene-disease validity assessment and classified the association with CH as limited.
PMID: 28633507 - reported consanguineous family with a homozygous DUOX1 frameshift variant in cis with a homozygous DUOX2 nonsense variant. Authors suggest this is a digenic cause for severe CH
No pathogenic variants reported in ClinVar.Created: 28 Feb 2025, 10:39 a.m. | Last Modified: 28 Feb 2025, 10:39 a.m.
Panel Version: 0.43
Mode of inheritance
Unknown
Phenotypes
congenital hypothyroidism MONDO:0018612
Publications
11 cases, but digenic model, with variants in other genes
Sources: LiteratureCreated: 3 Feb 2021, 4:31 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
congenital hypothyroidism, No OMIM #
Publications
Publications for gene: DUOX1 were set to PMID: 29650690
Gene: duox1 has been classified as Red List (Low Evidence).
Gene: duox1 has been classified as Amber List (Moderate Evidence).
Gene: duox1 has been classified as Amber List (Moderate Evidence).
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 #