| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Clefting disorders v0.124 | SATB2 | Zornitza Stark Marked gene: SATB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.124 | SATB2 | Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.124 | SATB2 | Zornitza Stark Phenotypes for gene: SATB2 were changed from Glass syndrome; GLASS SYNDROME; Cleft palate; GLASS; Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas; Chromosome 2q32-q33 deletion syndrome; Orofacial Clefting with skeletal features to Glass syndrome, MIM# 612313; MONDO:0100147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.123 | SATB2 | Zornitza Stark Publications for gene: SATB2 were set to 16179223 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.122 | SATB2 | Zornitza Stark Mode of inheritance for gene: SATB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.121 | SATB2 | Zornitza Stark reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.0 | SATB2 |
Zornitza Stark gene: SATB2 was added gene: SATB2 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SATB2 were set to 16179223 Phenotypes for gene: SATB2 were set to Glass syndrome; GLASS SYNDROME; Cleft palate; GLASS; Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas; Chromosome 2q32-q33 deletion syndrome; Orofacial Clefting with skeletal features |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||