Activity
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| Fetal anomalies v4.164 | TBX22 | Achchuthan Shanmugasundram Phenotypes for gene: TBX22 were changed from Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400; ?Abruzzo-Erickson syndrome, 302905; CLEFT PALATE, X-LINKED to Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TBX22 | Achchuthan Shanmugasundram commented on gene: TBX22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TBX22 | Samantha Doyle reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: 22784330, 14729838, 17868388, 11559848, 12374769; Phenotypes: Abruzzo-Erickson syndrome, OMIM:302905, Cleft palate with ankyloglossia, OMIM:303400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | TBX22 |
Achchuthan Shanmugasundram Source NHS GMS was added to TBX22. Mode of inheritance for gene TBX22 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400 for gene: TBX22 Publications for gene: TBX22 were updated from 22784330 to 22784330; 14729838; 17868388; 11559848; 12374769 |
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| Fetal anomalies v0.226 | TBX22 | Rebecca Foulger Marked gene: TBX22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.226 | TBX22 | Rebecca Foulger Added comment: Comment when marking as ready: Marked TBX22 as ready following clinical review, and review of evidence. April 29th 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.226 | TBX22 | Rebecca Foulger Gene: tbx22 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.223 | TBX22 |
Rebecca Foulger Source Expert Review Amber was added to TBX22. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.222 | TBX22 | Rebecca Foulger commented on gene: TBX22: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Amber for Abruzzo-Erickson syndrome (MIM: 302905) due to the limited evidence. The clefting phenotype has sufficient cases but is isolated cleft palate so unlikely to be seen prenatally (confirmed by Lyn Chitty, 26th April 2019). Therefore demote from Green to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.159 | TBX22 | Rebecca Foulger Publications for gene: TBX22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.158 | TBX22 | Rebecca Foulger Added comment: Comment on phenotypes: Added '?Abruzzo-Erickson syndrome, 302905' based on OMIM and clinical review that Abruzzo-Erickson syndrome phenotype is clinically relevant. Kept the question-mark because evidence for this gene:disease association is limited (1 family reported in Pauws et al., 2013 (PMID:22784330). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.158 | TBX22 | Rebecca Foulger Phenotypes for gene: TBX22 were changed from CLEFT PALATE, X-LINKED to CLEFT PALATE, X-LINKED; ?Abruzzo-Erickson syndrome, 302905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBX22 | Rebecca Foulger reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TBX22 |
Rebecca Foulger gene: TBX22 was added gene: TBX22 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED |
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