Genomics England
GMS Panels
Panels
Genes and Entities

FGD1

FYVE, RhoGEF and PH domain containing 1
OMIM: 300546
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
AARSKOG-SCOTT SYNDROME, AAS
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
AARSKOG-SCOTT SYNDROME 305400
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
AARSKOG-SCOTT SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Aarskog-Scott syndrome, 305400Mental retardation, X-linked syndromic 16, 305400, AARSKOG-SCOTT SYNDROME (AAS)
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Aarskog-Scott syndrome 305400