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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