Limb disorders
Gene: FGD1

FGD1 (FYVE, RhoGEF and PH domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000102302
EnsemblGeneIds (GRCh37): ENSG00000102302
OMIM: 300546, Gene2Phenotype
FGD1 is in 8 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Associated with Aarskog-Scott syndrome (faciogenital dysplasia) in OMIM and Gene2Phenotype (confirmed). Numerous cases reported of individuals with variants in this gene and Aarskog-Scott syndrome. More than 3 patients reported have relevant phenotypes (Brachyd/clinod/camptodactyly) e.g. in Orrico et al (2004)(PMID: 14560308)
Created: 7 Nov 2018, 1:26 p.m.

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

Phenotypes
Aarskog-Scott syndrome 305400

Publications

Created: 7 Nov 2018, 1:26 p.m.

Panel version: 0.270

Olivia Niblock (Genomics England Curator)

I don't know

Evidence in the literature suggests that variants in this gene are linked with Aarskog–Scott syndrome. Phenotypes include ADHD and Intellectual disability with some patients presenting with brachydactyly and clinodactyly.
Created: 5 Apr 2018, 3:45 p.m.

Publications

15809997

Created: 5 Apr 2018, 3:45 p.m.

Panel version: 0.68

Details

Mode of Inheritance

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

Sources

Expert Review Green
London South East RGC GSTT
Viapath

Phenotypes

Aarskog-Scott syndrome 305400

OMIM

300546

Clinvar variants

Variants in FGD1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Olivia Niblock: Evidence in the literature sug

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fgd1 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to FGD1. Mode of inheritance for gene FGD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Aarskog-Scott syndrome 305400 for gene: FGD1 Publications for gene FGD1 were changed from 15809997 to 14560308; 20082460; 17152066; 11093277; 7954831; 10930571; 15809997 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Apr 2018, Gel status: 2