Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Clefting disorders

Gene: FGD1

Green List (high evidence)

FGD1 (FYVE, RhoGEF and PH domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000102302
EnsemblGeneIds (GRCh37): ENSG00000102302
OMIM: 300546, Gene2Phenotype
FGD1 is in 9 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • AARSKOG-SCOTT SYNDROME
  • AAS
OMIM
300546
Clinvar variants
Variants in FGD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGD1 was added gene: FGD1 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGD1 were set to 20082460 Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME; AAS