FGD1

FYVE, RhoGEF and PH domain containing 1
OMIM: 300546, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red FGD1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Aarskog-Scott syndrome, MIM# 305400 Mental retardation, X-linked syndromic 16, MIM# 305400
Red FGD1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Aarskog-Scott syndrome Intellectual developmental disorder, X-linked syndromic 16, MIM#305400
Green FGD1 in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aarskog-Scott syndrome, MIM # 305400 Mental retardation, X-linked syndromic 16, MIM# 305400
Green FGD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Aarskog-Scott syndrome, MIM # 305400 Mental retardation, X-linked syndromic 16, MIM# 305400
Green FGD1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Aarskog-Scott syndrome
Green FGD1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes AARSKOG-SCOTT SYNDROME AAS
Green FGD1 in Growth failure Version 1.76	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Aarskog-Scott syndrome, MIM # 305400
Green FGD1 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Aarskog-Scott syndrome, MIM # 305400 Mental retardation, X-linked syndromic 16, MIM# 305400
Red FGD1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Aarskog-Scott syndrome, MIM # 305400 Mental retardation, X-linked syndromic 16, MIM# 305400