TBX15

T-box 15
OMIM: 604127, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TBX15 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.250

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Cousin syndrome - MIM#260660

Green TBX15 in Mendeliome


Version 1.4865

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cousin syndrome, MIM# 260660
  • Cleft palate, MONDO:0016064, TBX15-related

Green TBX15 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.449

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Cousin syndrome 260660

Green TBX15 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.318

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pelviscapular dysplasia (Cousin syndrome), MONDO:0009845
  • Cleft palate, MONDO:0016064, TBX15-related

Green TBX15 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.93

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Cousin syndrome 260660

    Green TBX15 in Fetal anomalies


    Version 1.577

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Cousin syndrome, MIM# 260660
    • Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature