Limb disordersGene: FGD1
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
Aarskog-Scott syndrome 305400
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.
Olivia Niblock: Evidence in the literature sug
Gene: fgd1 has been classified as Green List (High Evidence).
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)
Publications for FGD1 were set to 15809997
This gene has been classified as Amber List (Moderate Evidence).
London South East RGC GSTT was added to FGD1. Panel: Limb disorders
FGD1 was added to Limb disorders panel. Sources: Viapath
FGD1 was created by Ellen McDonagh