Mandibulofacial Acrofacial dysostosis
Gene: VGLL2
VGLL2 (vestigial like family member 2)
EnsemblGeneIds (GRCh38): ENSG00000170162
EnsemblGeneIds (GRCh37): ENSG00000170162
OMIM: 609979, Gene2Phenotype
VGLL2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000170162
EnsemblGeneIds (GRCh37): ENSG00000170162
OMIM: 609979, Gene2Phenotype
VGLL2 is in 2 panels
1 review
Chirag Patel (Genetic Health Queensland)
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: OtherCreated: 24 Jul 2023, 2:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syngnathia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Syngnathia, MONDO:0015409, VGLL2-related
- OMIM
- 609979
- Clinvar variants
- Variants in VGLL2
- Penetrance
- None
- Panels with this gene
History Filter Activity
25 Jul 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vgll2 has been classified as Green List (High Evidence).
25 Jul 2023, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: VGLL2 were changed from Syngnathia to Syngnathia, MONDO:0015409, VGLL2-related
24 Jul 2023, Gel status: 3
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: vgll2 has been classified as Green List (High Evidence).
24 Jul 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)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