TSHB:Ensemblv115

thyroid stimulating hormone subunit beta
OMIM: 188540, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TSHB in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Hypothryoidism, congenital, nongoitrous 4, 275100 (3)

Green TSHB in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Hypothryoidism, congenital, nongoitrous 4

Green TSHB in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Congenital hypothyroidism
  • Hypothryoidism, congenital, nongoitrous 4, 275100
  • severe isolated central hypothyroidism

Green TSHB in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Hypothryoidism, congenital, nongoitrous 4, 275100 (3)

Green TSHB in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous 4, MIM#275100
Tags
  • treatable
  • endocrine

Green TSHB in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous 4 MIM#275100