FGD1 Chromosome X
FYVE, RhoGEF and PH domain containing 1
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What This Gene Does
This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000102302
Associated Conditions (9)
Aarskog syndrome
Inborn genetic diseases
FGD1-related disorder
Intellectual disability
Russell-Silver syndrome
History of neurodevelopmental disorder
Syndromic X-linked intellectual disability Claes-Jensen type
Neurodevelopmental delay
Nonpapillary renal cell carcinoma
Key Variants
RS137853266
Conflicting classifications of pathogenicity
Aarskog syndrome, Inborn genetic diseases, Aarskog syndrome
Health Risk
RS142114385
Conflicting classifications of pathogenicity
FGD1-related disorder, FGD1-related disorder
Health Risk
RS147008826
Conflicting classifications of pathogenicity
Aarskog syndrome, Aarskog syndrome
Health Risk
RS147012050
Conflicting classifications of pathogenicity
Inborn genetic diseases, FGD1-related disorder, Inborn genetic diseases
Health Risk
RS148139633
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150865566
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1557189455
Conflicting classifications of pathogenicity
Aarskog syndrome, Aarskog syndrome
Health Risk
RS189159946
Conflicting classifications of pathogenicity
FGD1-related disorder, FGD1-related disorder
Health Risk
RS200707592
Conflicting classifications of pathogenicity
Health Risk
RS201996522
Conflicting classifications of pathogenicity
Inborn genetic diseases, FGD1-related disorder, Inborn genetic diseases
Health Risk
RS28935498
Conflicting classifications of pathogenicity
Aarskog syndrome, Intellectual disability, Inborn genetic diseases
Health Risk
RS368646447
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Intellectual disability
Health Risk
All Variants (88)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137853266 | Health Risk | Conflicting classifications of pathogenicity | Aarskog syndrome, Inborn genetic diseases, Aarskog syndrome |
| RS142114385 | Health Risk | Conflicting classifications of pathogenicity | FGD1-related disorder, FGD1-related disorder |
| RS147008826 | Health Risk | Conflicting classifications of pathogenicity | Aarskog syndrome, Aarskog syndrome |
| RS147012050 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, FGD1-related disorder, Inborn genetic diseases |
| RS148139633 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150865566 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1557189455 | Health Risk | Conflicting classifications of pathogenicity | Aarskog syndrome, Aarskog syndrome |
| RS189159946 | Health Risk | Conflicting classifications of pathogenicity | FGD1-related disorder, FGD1-related disorder |
| RS200707592 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201996522 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, FGD1-related disorder, Inborn genetic diseases |
| RS28935498 | Health Risk | Conflicting classifications of pathogenicity | Aarskog syndrome, Intellectual disability, Inborn genetic diseases |
| RS368646447 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Inborn genetic diseases, Intellectual disability |
| RS373950992 | Health Risk | Conflicting classifications of pathogenicity | Aarskog syndrome, Aarskog syndrome |
| RS377441190 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS398124157 | Health Risk | Conflicting classifications of pathogenicity | History of neurodevelopmental disorder, FGD1-related disorder, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS398124159 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS570837555 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747008412 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749800625 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750940208 | Health Risk | Conflicting classifications of pathogenicity | Aarskog syndrome, Aarskog syndrome |
| RS752282314 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, FGD1-related disorder, Intellectual disability |
| RS757589705 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759075971 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Aarskog syndrome, Inborn genetic diseases |
| RS765178830 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779475596 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS869312743 | Health Risk | Conflicting classifications of pathogenicity | Aarskog syndrome, Aarskog syndrome |
| RS1085307841 | Health Risk | Likely pathogenic | — |
| RS1277307657 | Health Risk | Likely pathogenic | — |
| RS1557189252 | Health Risk | Likely pathogenic | Inborn genetic diseases, Aarskog syndrome, FGD1-related disorder |
| RS1557189608 | Health Risk | Likely pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS1922317423 | Health Risk | Likely pathogenic | — |
| RS1922347865 | Health Risk | Likely pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS2147434002 | Health Risk | Likely pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS2522684473 | Health Risk | Likely pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS2522688358 | Health Risk | Likely pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS2522688418 | Health Risk | Likely pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS2522691621 | Health Risk | Likely pathogenic | — |
| RS2522693820 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2522698895 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2522698958 | Health Risk | Likely pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS2522708942 | Health Risk | Likely pathogenic | — |
| RS2522715548 | Health Risk | Likely pathogenic | — |
| RS61734178 | Health Risk | Likely pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS137853267 | Health Risk | Pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS1557189592 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1557191602 | Health Risk | Pathogenic | Inborn genetic diseases, FGD1-related disorder, Inborn genetic diseases |
| RS1569541211 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569541255 | Health Risk | Pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS1601950553 | Health Risk | Pathogenic | Aarskog syndrome, Aarskog syndrome |
| RS1601953552 | Health Risk | Pathogenic | Aarskog syndrome, Aarskog syndrome |