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BabyScreen+ newborn screening

Gene: THRA

Green List (high evidence)

THRA (thyroid hormone receptor, alpha)
EnsemblGeneIds (GRCh38): ENSG00000126351
EnsemblGeneIds (GRCh37): ENSG00000126351
OMIM: 190120, Gene2Phenotype
THRA is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least improvement with thyroxine reported.
Created: 23 Dec 2022, 6:29 a.m. | Last Modified: 23 Dec 2022, 6:29 a.m.
Panel Version: 0.1661

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450

John Christodoulou (Murdoch Children's Research Institute)

I don't know

Congenital nongoitrous hypothyroidism 6

normal TSH, so will be missed by NBS

treatment with thyroxine; others report that patients are resistant to thyroxine therapy (PMID: 28527577)
Created: 23 Dec 2022, 5:32 a.m. | Last Modified: 23 Dec 2022, 5:43 a.m.
Panel Version: 0.1643

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
goitre; macrocephaly; delayed suture closure

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450
Tags
treatable endocrine
OMIM
190120
Clinvar variants
Variants in THRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thra has been classified as Green List (High Evidence).

23 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: THRA were changed from Hypothyroidism, congenital, nongoitrous, 6 to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450

23 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: THRA were set to

23 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: THRA. Tag endocrine tag was added to gene: THRA.

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: THRA was added gene: THRA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6