Mandibulofacial Acrofacial dysostosis

Gene: VGLL2

Green List (high evidence)

VGLL2 (vestigial like family member 2)
EnsemblGeneIds (GRCh38): ENSG00000170162
EnsemblGeneIds (GRCh37): ENSG00000170162
OMIM: 609979, Gene2Phenotype
VGLL2 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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
Created: 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