Genes in panel
STRs in panel
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Clefting

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

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
AARSKOG-SCOTT SYNDROME; AAS

Publications

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
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FGD1 was added to Cleftingpanel. Sources: Expert Review Green

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FGD1 was created by ellenmcdonagh