TBX19:Ensemblv115

T-box transcription factor 19
OMIM: 604614, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TBX19 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Literature
  • Expert Review Green
Phenotypes
  • Adrenocorticotropic hormone deficiency - 201400

Green TBX19 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
  • Adrenocorticotropic hormone deficiency, 201400 (3)

Green TBX19 in Pituitary hormone deficiency

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

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Adrenocorticotropic hormone deficiency, 201400

Green TBX19 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Adrenocorticotropic hormone deficiency, MIM# 201400

Green TBX19 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Adrenocorticotropic hormone deficiency, MIM#201400
Tags
  • treatable
  • endocrine