1. Panels
  2. Monogenic short stature
  3. FGD1
STRs in panel
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Monogenic short stature

Gene: FGD1

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.
Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.78

Details

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

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: FGD1 was added gene: FGD1 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGD1 were set to Aarskog