Coarse facial features including Coffin-Siris-like disorders

Gene: THRA

Red List (low evidence)

THRA (thyroid hormone receptor, alpha)
EnsemblGeneIds (GRCh38): ENSG00000126351
EnsemblGeneIds (GRCh37): ENSG00000126351
OMIM: 190120, Gene2Phenotype
THRA is in 9 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Congenital hypothyroidism is on exclusion criteria so not relevant to this panel
Created: 24 Nov 2016, 9:59 a.m.

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

  • http://www.ncbi.nlm.nih.gov/pubmed/25670821

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Congenital hypothyroidism
OMIM
190120
Clinvar variants
Variants in THRA
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

24 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jan 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

THRA was created by alicegardham

29 Jan 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

THRA was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN