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| Clefting disorders v0.87 | TBX2 | Zornitza Stark Marked gene: TBX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.87 | TBX2 | Zornitza Stark Gene: tbx2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.6 | TBX2 |
Zornitza Stark gene: TBX2 was added gene: TBX2 was added to Clefting_GEL. Sources: Expert list Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX2 were set to 29726930 Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223 Review for gene: TBX2 was set to RED Added comment: Four individuals reported from two unrelated families with a syndromic disorder, chiefly comprising skeletal, endocrine and immune abnormalities, reminiscent of VCFS. One of the four reported individuals had unilateral cleft lip/palate. Sources: Expert list |
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| Clefting disorders v0.0 | TBX22 |
Zornitza Stark 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 |
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