Clefting
Gene: TBX22Comment on phenotypes: added more phenotypes due to expert review comment and OMIMCreated: 19 Dec 2016, 4:44 p.m.
Comment on publications: PMID via expert reviewerCreated: 19 Dec 2016, 4:44 p.m.
Comment on list classification: Promoted gene from Amber to Green status due to expert reviews and evidencesCreated: 19 Dec 2016, 4:43 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Cleft palate; ankyloglossia
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Cleft palate; submucous cleft; ankyloglossia; palate; cleft lip
Publications
Victorian Clinical Genetics Services was added to TBX22. Panel: Clefting Phenotypes for gene TBX22 were set to Cleft palate with ankyloglossia, 303400, sub mucous cleft, palate, cleft lip, CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED, CPX, Cleft palate
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Phenotypes for TBX22 were set to Cleft palate with ankyloglossia, 303400; sub mucous cleft; palate; cleft lip; CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; CPX
Publications for TBX22 were set to 11559848; 12374769; 14729838; 17846996; 19648124; 19648291; 21248356; 22784330
This gene has been classified as Green List (High Evidence).
TBX22 was added to Cleftingpanel. Source: Illumina TruGenome Clinical Sequencing Services
TBX22 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
TBX22 was created by oniblock