Congenital hypothyroidism
Gene: IYDComment on publications: Previous phenotypes - 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;24629858 (Review);18765512Created: 30 Nov 2023, 12:12 p.m. | Last Modified: 30 Nov 2023, 12:12 p.m.
Panel Version: 2.18
Comment on mode of inheritance: Changed mode of inheritance from 'biallelic' to 'both biallelic and monoallelic' based on comments from reviewer and PMID:18765512 (Afink et al., 2008) who note 1 heterozygous carrier of A220T in IYD (DEHAL1) developed non-autoimmune goitrous hypothyroidism at 15 years of age pointing to a possible dominant behaviour of the mutation in some individuals.Created: 13 Feb 2017, 4:01 p.m.
Comment on list classification: Updated rating from Red to Green: 1 Green review plus >3 unrelated cases of IYD mutations in patients from different populations/ethnicities with hypothryoidism.Created: 13 Feb 2017, 3:32 p.m.
Goitrous CH, mono or biallelic, may be later onset, elevated urinary MIT and DIT, normal iodide organificationCreated: 11 Feb 2017, 12:26 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
goitre; childhood/adolescent onset hypothyroidism; normal iodide organification; raised urinary MIT and DIT
Publications
Publications for gene: IYD were set to 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; 24629858 (Review); 18765512
Phenotypes for gene: IYD were changed from Congenital hypothyroidism; Thyroid dyshormonogenesis 4, 274800; goitre; childhood/adolescent onset hypothyroidism; normal iodide organification; raised urinary MIT and DIT to Thyroid dyshormonogenesis 4, OMIM:274800
22 February 2017: Promoted to Version 1. Reviews were assessed, and panel was revised according to expert review and additional curation. After discussion with the reviewer and in-house clinicians, it was agreed to include the genes for 'combined pituitary hormone deficiency' (CPHD) on the panel, since patients can present with central hypothyroidism (CH). In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies.
Mode of inheritance for IYD was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for IYD was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for IYD were set to 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; 24629858 (Review); 18765512
Publications for IYD were set to 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; 24629858 (Review)
This gene has been classified as Green List (High Evidence).
Publications for IYD were set to 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.
Publications for IYD were set to 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 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 IYD were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 4, 274800; goitre; childhood/adolescent onset hypothyroidism; normal iodide organification; raised urinary MIT and DIT
Publications for IYD were set to 18434651; 22535972
IYD was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Other
IYD was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Illumina TruGenome Clinical Sequencing Services
IYD was created by oniblock