Clefting disorders
Gene: TBX22
TBX22 (T-box 22)
EnsemblGeneIds (GRCh38): ENSG00000122145
EnsemblGeneIds (GRCh37): ENSG00000122145
OMIM: 300307, Gene2Phenotype
TBX22 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000122145
EnsemblGeneIds (GRCh37): ENSG00000122145
OMIM: 300307, Gene2Phenotype
TBX22 is in 9 panels
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Phenotypes
-
- Cleft palate with ankyloglossia, 303400
- Cleft palate
- CPX
- cleft lip
- palate
- CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED
- sub mucous cleft
- OMIM
- 300307
- Clinvar variants
- Variants in TBX22
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TBX22 was added gene: TBX22 was added to Clefting_GEL. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TBX22 were set to 19648124; 17846996; 21248356; 12374769; 11559848; 19648291; 22784330; 14729838 Phenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, 303400; Cleft palate; CPX; cleft lip; palate; CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; sub mucous cleft