1. Panels
  2. IUGR and IGF abnormalities
  3. FGD1
STRs in panel
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IUGR and IGF abnormalities

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 8 panels

3 reviews

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Philip Murray (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Peter Clayton (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Aarskog
OMIM
300546
Clinvar variants
Variants in FGD1
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Apr 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for FGD1 were set to Aarskog

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for FGD1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FGD1 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory