TBX22:Ensemblv115

T-box transcription factor 22
OMIM: 300307, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red TBX22 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Cleft palate with ankyloglossia, MIM# 303400
  • Abruzzo-Erickson syndrome, MIM# 302905

Green TBX22 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TBX22 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Red TBX22 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Cleft palate with ankyloglossia, MIM #303400

Green TBX22 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate with ankyloglossia, 303400
  • Cleft palate
  • CPX
  • cleft lip
  • palate
  • CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED
  • sub mucous cleft

Red TBX22 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Cleft palate with ankyloglossia, MIM #303400