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Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 28 Mar 2022, 9:20 p.m. | Last Modified: 28 Mar 2022, 9:20 p.m.
Panel Version: 0.12221

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450
OMIM
190120
Clinvar variants
Variants in THRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 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).

28 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: THRA were set to

28 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: THRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: THRA was added gene: THRA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: THRA was set to Unknown