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| Mandibulofacial Acrofacial dysostosis v2.9 | VGLL2 | chirag patel Publications for gene: VGLL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v2.8 | VGLL2 | chirag patel edited their review of gene: VGLL2: Added comment: PMID 37666660 reports the ESHG cases: 6 individuals from 4 families with biallelic VGLL2 variants presenting with isolated congenital bony syngnathia (jaw bone fusion, sometimes with cleft palate). The variants (p.Gln151Ter p.Glu67Ter) and segregated in all families, with founder effect in Turkish families. Zebrafish vgll2a and vgll4l knockouts and Vgll2‑/‑ mouse models showed no craniofacial defects, suggesting species‑specific compensation.; Changed publications: 37666660; Changed phenotypes: Syngnathia, MONDO:0015409, VGLL2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v2.8 | VGLL2 |
chirag patel changed review comment from: ESHG 2023: 4 families/7 affected individuals with isolated unilateral/bilateral syngnathia biallelic truncating variants in VGLL2 But not phenotype in KO mouse or zebrafish models Sources: Other; to: ESHG 2023: 4 families/7 affected individuals with isolated unilateral/bilateral syngnathia biallelic truncating variants in VGLL2 But not phenotype in KO mouse or zebrafish models Sources: Other |
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| Mandibulofacial Acrofacial dysostosis v2.0 | VGLL2 | Gene migrated from ENSG00000170162 to ENSG00000170162 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v1.8 | VGLL2 | Zornitza Stark Marked gene: VGLL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v1.8 | VGLL2 | Zornitza Stark Gene: vgll2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v1.8 | VGLL2 | Zornitza Stark Phenotypes for gene: VGLL2 were changed from Syngnathia to Syngnathia, MONDO:0015409, VGLL2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v1.7 | VGLL2 | chirag patel Classified gene: VGLL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v1.7 | VGLL2 | chirag patel Gene: vgll2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v1.6 | VGLL2 |
chirag patel gene: VGLL2 was added gene: VGLL2 was added to Mandibulofacial Acrofacial dysostosis. Sources: Other Mode of inheritance for gene: VGLL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VGLL2 were set to Syngnathia Review for gene: VGLL2 was set to GREEN Added comment: ESHG 2023: 4 families/7 affected individuals with isolated unilateral/bilateral syngnathia biallelic truncating variants in VGLL2 But not phenotype in KO mouse or zebrafish models Sources: Other |
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