Congenital hypothyroidism
Gene: IYDEnsemblGeneIds (GRCh38): ENSG00000009765
EnsemblGeneIds (GRCh37): ENSG00000009765
OMIM: 612025, Gene2Phenotype
IYD is in 6 panels
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Genomics England PanelApp
- Expert Review Green
- Phenotypes
-
- childhood/adolescent onset hypothyroidism
- Thyroid dyshormonogenesis 4, 274800
- normal iodide organification
- Congenital hypothyroidism
- raised urinary MIT and DIT
- goitre
- OMIM
- 612025
- Clinvar variants
- Variants in IYD
- Penetrance
- None
- Publications
-
- 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
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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