Congenital hypothyroidism

Gene: IYD

Green List (high evidence)

IYD (iodotyrosine deiodinase)
EnsemblGeneIds (GRCh38): ENSG00000009765
EnsemblGeneIds (GRCh37): ENSG00000009765
OMIM: 612025, Gene2Phenotype
IYD is in 1 panel

2 reviews

Rebecca Foulger (Genomics England curator)

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.

Nadia Schoenmakers (University of Cambridge)

Green List (high evidence)

Goitrous CH, mono or biallelic, may be later onset, elevated urinary MIT and DIT, normal iodide organification
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital hypothyroidism
  • Thyroid dyshormonogenesis 4, 274800
  • goitre
  • childhood/adolescent onset hypothyroidism
  • normal iodide organification
  • raised urinary MIT and DIT
OMIM
612025
Clinvar variants
Variants in IYD
Penetrance
Complete
Publications
  • 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
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

13 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for IYD was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for IYD was changed to BIALLELIC, autosomal or pseudoautosomal

13 Feb 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

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

13 Feb 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

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)

13 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

13 Feb 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

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.

13 Feb 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

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.

13 Feb 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

13 Feb 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for IYD were set to 18434651; 22535972

23 Jan 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

IYD was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Other

13 Oct 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

IYD was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Illumina TruGenome Clinical Sequencing Services

13 Oct 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

IYD was created by oniblock