PanelApp (test)
  1. Panels
  2. Congenital Heart Defect
Description
This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.
Panel Activity

57 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Sue White (Victorian Clinical Genetics Services)

  • Tegan French (Victorian Clinical Genetics Services)

  • Emanuel Birru (Other)

  • Ting Chan (University of Melbourne Centre for Cancer Research)

  • Jen Malcolm (Other)

  • Konstantinos Varvagiannis (Other)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Chloe Stutterd (Victorian Clinical Genetics Services)

  • Kaitlyn Dianna Weldon (University of Melbourne)

  • Violeta Velkoska-Ivanova (University of Melbourne)

  • Luke Tork (University of Melbourne Centre for Cancer Research)

  • Danielle Ariti (University of Melbourne)

  • Dion Paul (Other)

  • Uditi Shah (Other)

  • Purvi Kakadiya (Other)

  • Sivaranjani Balachander (Other)

  • Chris McEvoy (Other)

  • Sharyn Stockmyer (Other)

  • Emma Northrop (Other)

  • Michelle Wu (Other)

  • Joce vd Bergen (Other)

  • Ceecee Britten-Jones (Other)

  • Julia Broadbent (Murdoch Children's Research Institute)

  • Richard McCoy (Other)

  • LUCAS GARCIA ALVES FERREIRA (University of Sao Paolo)

  • Lucas Mitchell (Other)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Yi-Wei Chao (Other)

  • Dee Lawlor (Other)

  • GORJANA ROBEVSKA (Murdoch Children's Research Institute)

  • Chirag Patel (Genetic Health Queensland)

  • Penny Snell (Murdoch Children's Research Institute)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Harshini Thiyagarajah (University of Melbourne)

  • Rajini Sreenivasan (Peter MacCallum Cancer Centre)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Laura S (Other)

  • Arthur Limawan (Monash University)

  • Zoe Ward (Other)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Ling Sun (Other)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Polly McIntosh (Other)

  • Mary Huang (University of Melbourne)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Gina Ravenscroft (University of Western Australia)

200 Entities

159 reviewed, 169 green

List Entity Reviews Mode of inheritance Details
200 Entitiess
Green Green List (high evidence)
ABL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome (MIM# 617602)
Tags
Green Green List (high evidence)
ACTC1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial septal defect 5, MIM# 612794
Tags
  • founder
Green Green List (high evidence)
ACVR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart disease, MONDO:0005453
Tags
Green Green List (high evidence)
ADAMTS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Weill-Marchesani syndrome 1, recessive, MIM# 277600
Tags
Green Green List (high evidence)
ADAMTS19
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac valvular dysplasia 2, MIM# 620067
Tags
Green Green List (high evidence)
AFF4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • CHOPS syndrome, MIM# 616368
  • ventricular septal defect
  • patent ductus arteriosus
  • patent foramen ovale
Tags
Green Green List (high evidence)
AL117258.1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, MONDO:0018677
  • congenital heart defects
Tags
Green Green List (high evidence)
ALDH1A2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025
Tags
Green Green List (high evidence)
AMOTL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related
Tags
Green Green List (high evidence)
ANKRD11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • KBG syndrome, MIM# 148050
Tags
Green Green List (high evidence)
ARID1A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome MONDO:0015452
Tags
Green Green List (high evidence)
ARID1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 1, MIM# 135900
Tags
Green Green List (high evidence)
B3GAT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600
Tags
Green Green List (high evidence)
BCOR
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 2, MIM# 300166
  • Oculofaciocardiodental syndrome
  • Lenz microphthalmia
Tags
Green Green List (high evidence)
BMP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877
Tags
Green Green List (high evidence)
BRAF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome, 115150
  • Noonan syndrome 7, 613706
Tags
Green Green List (high evidence)
CCDC22
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ritscher-Schinzel syndrome 2, MIM# 300963
Tags
Green Green List (high evidence)
CDK13
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
Tags
Green Green List (high evidence)
CFC1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 2, MIM# 605376
Tags
Green Green List (high evidence)
CHD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sifrim-Hitz-Weiss syndrome (MIM#617159)
Tags
Green Green List (high evidence)
CHD7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CHARGE syndrome (MIM# 214800)
Tags
Green Green List (high evidence)
CITED2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial septal defect 8, 614433
  • Ventricular septal defect 2, 614431
Tags
Green Green List (high evidence)
CREBBP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rubinstein-Taybi syndrome 1 , MIM#180849
Tags
Green Green List (high evidence)
CTNNB1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spastic diplegia and visual defects MIM#615075
Tags
Green Green List (high evidence)
CUL3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without autism or seizures (MIM#619239)
Tags
Green Green List (high evidence)
DLG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Yuksel-Vogel-Bauer syndrome, MIM#620703
Tags
Green Green List (high evidence)
DLL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adams-Oliver syndrome 6 MIM#616589
Tags
Green Green List (high evidence)
DNAH11
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart diseases
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884
Tags
Green Green List (high evidence)
DNAH5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644
Tags
Green Green List (high evidence)
DNAH9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 40 618300
  • Heterotaxy
Tags
Green Green List (high evidence)
DOCK6
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adams-Oliver syndrome 2 MIM#614219
Tags
Green Green List (high evidence)
DOHH
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Tags
Green Green List (high evidence)
EFTUD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type (MIM#610536
  • MONDO:0012516)
Tags
Green Green List (high evidence)
EHMT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 1, MIM# 610253
  • MONDO:0027407
Tags
  • SV/CNV
Green Green List (high evidence)
ELN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Supravalvar aortic stenosis, MIM# 185500
Tags
Green Green List (high evidence)
EP300
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Rubinstein-Taybi syndrome 2, MIM# 613684
Tags
Green Green List (high evidence)
ESCO2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Roberts-SC phocomelia syndrome, MIM# 268300
  • Atrial septal defect
  • Ventricular septal defect
  • Pulmonic stenosis
  • tricuspid regurgitation
Tags
Green Green List (high evidence)
EVC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ellis-van Creveld syndrome, MIM# 225500
Tags
Green Green List (high evidence)
EVC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ellis-van Creveld syndrome (MIM#225500)
Tags
Green Green List (high evidence)
FBN1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FGFR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FLNA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FLT4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects, multiple types, 7, MIM#618780
Tags
Green Green List (high evidence)
FOXC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FOXC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FRYL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, FRYL-related
Tags
Green Green List (high evidence)
GATA4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial septal defect 2 MIM#607941
  • Atrioventricular septal defect 4 MIM#614430
  • Ventricular septal defect 1 MIM#614429
Tags
Green Green List (high evidence)
GATA6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pancreatic agenesis and congenital heart defects, MIM# 600001
Tags
Green Green List (high evidence)
GDF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects, multiple types, 6 MIM#613854
Tags
Green Green List (high evidence)
GJA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GLI3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Pallister-Hall syndrome, MIM# 146510
  • ASD, VSD, AVSD, aortic arch anomaly, PDA
Tags
Green Green List (high evidence)
GPC3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HAAO
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660
  • Atrial septal defect
  • Hypoplastic left heart syndrome
  • Aortic stenosis
  • Mitral stenosis
  • Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis
  • Lsvc and left pulmonary artery arising from the ductus arteriosus
  • Shone syndrome with aortic coarctation
Tags
Green Green List (high evidence)
HDAC8
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Cornelia de Lange syndrome 5, MIM# 300882
Tags
Green Green List (high evidence)
HNRNPK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Au-Kline syndrome MIM#616580
Tags
Green Green List (high evidence)
HRAS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HSPA9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Even-plus syndrome, MIM# 616854
  • skeletal anomalies
  • congenital cardiac and renal anomalies: marked small nose
Tags
Green Green List (high evidence)
HYAL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cleft lip and palate
  • cor triatriatum
  • congenital cardiac malformations
Tags
Green Green List (high evidence)
IFT74
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Jeune syndrome (MONDO:0018770), IFT74-related
Tags
Green Green List (high evidence)
IGF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Silver-Russell syndrome 3 MIM#616489
Tags
Green Green List (high evidence)
INVS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 2, infantile, (MIM#602088)
Tags
Green Green List (high evidence)
JAG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alagille syndrome 1 #118450
Tags
Green Green List (high evidence)
KANSL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Koolen-De Vries syndrome, MIM# 610443
Tags
  • SV/CNV
Green Green List (high evidence)
KAT6A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KAT6B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KDM2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO#0700092, KDM2B-related
Tags
Green Green List (high evidence)
KDM6A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KDR
4 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Tetralogy of Fallot, MONDO:0008542
Tags
Green Green List (high evidence)
KMT2A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KMT2D
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KRAS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KYNU
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 2, MIM# 617661
Tags
Green Green List (high evidence)
LZTR1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac defects
  • hypertrophic cardiomyopathy
  • atrial septal defect
  • pulmonary stenosis
  • short stature
  • intellectual disabilities
Tags
Green Green List (high evidence)
MAP2K1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MAP2K2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MAP3K7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cardiospondylocarpofacial syndrome (CSCF) MIM# 157800
  • Frontometaphyseal dysplasia 2 (FMD2) MIM# 617137
Tags
Green Green List (high evidence)
MAP4K4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • RASopathy, MONDO:0021060, MAP4K4-related
Tags
Green Green List (high evidence)
MAPK1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 13 - MIM#619087
Tags
Green Green List (high evidence)
MAPKAPK5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neurocardiofaciodigital syndrome, MIM# 619869
Tags
Green Green List (high evidence)
MED12
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hardikar syndrome, MIM# 301068
  • Lujan-Fryns syndrome, MIM# 309520
  • Ohdo syndrome, X-linked, MIM# 300895
Tags
Green Green List (high evidence)
MED13L
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MEIS2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate, cardiac defects, and mental retardation (MIM#600987)
Tags
Green Green List (high evidence)
MYH11
1 review
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MYH6
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MYH7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ebstein anomaly
Tags
Green Green List (high evidence)
NAA15
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787
Tags
Green Green List (high evidence)
NADSYN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
  • Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Tags
Green Green List (high evidence)
NF1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NIPBL
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NKX2-5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ventricular septal defect 3 (MIM#614432)
  • Tetralogy of Fallot (MIM#187500)
Tags
Green Green List (high evidence)
NKX2-6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Conotruncal heart malformations - MIM#217095
  • Persistent truncus arteriosus - MIM#217095
Tags
Green Green List (high evidence)
NONO
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, syndromic 34, MIM# 300967
Tags
Green Green List (high evidence)
NOTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adams-Oliver syndrome 5 (MIM#616028)
Tags
Green Green List (high evidence)
NOTCH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alagille syndrome 2 (MIM#610205)
  • Hajdu-Cheney syndrome (MIM#102500)
Tags
Green Green List (high evidence)
NPHP3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NPHP4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NR2F2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 46,XX sex reversal 5 - MIM#618901
  • Congenital heart defects, multiple types, 4 - MIM#615779
Tags
Green Green List (high evidence)
NRAS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NSD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NUP188
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sandestig-Stefanova syndrome MIM 618804
Tags
Green Green List (high evidence)
PAN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease MONDO:0002254
Tags
Green Green List (high evidence)
PBX1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PIGL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CHIME syndrome, MIIM# 280000
Tags
Green Green List (high evidence)
PITX2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PKD1L1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 8, autosomal
  • HTX8 (MIM617205)
Tags
Green Green List (high evidence)
PLD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cardiac valvular defect, developmental, MIM# 212093
  • neonatal cardiomyopathy
Tags
  • founder
Green Green List (high evidence)
PLXND1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects, multiple types, 9, MIM# 620294
Tags
Green Green List (high evidence)
POLR1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acrofacial dysostosis, Cincinnati type MIM#616462
Tags
Green Green List (high evidence)
PRDM6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PRKACA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 1, MIM# 619142
  • Postaxial hand polydactyly
  • Postaxial foot polydactyly
  • Common atrium
  • Atrioventricular canal defect
  • Narrow chest
  • Abnormality of the teeth
  • Intellectual disability
Tags
Green Green List (high evidence)
PRKACB
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 2, MIM# 619143
  • Postaxial hand polydactyly
  • Postaxial foot polydactyly
  • Common atrium
  • Atrioventricular canal defect
  • Narrow chest
  • Abnormality of the teeth
  • Intellectual disability
Tags
Green Green List (high evidence)
PRKD1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, 617364
  • Autosomal Recessive Congenital Heart Disease
Tags
Green Green List (high evidence)
PTPN11
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RAB23
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RAD21
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RAF1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RERE
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (OMIM #616975)
Tags
Green Green List (high evidence)
RIT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ROBO1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tetralogy of Fallot
  • septal defects
Tags
Green Green List (high evidence)
SALL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SALL4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SEMA3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897
  • congenital heart disease
  • short stature
Tags
Green Green List (high evidence)
SF3B4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SHOC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome-like with loose anagen hair 1, MIM# 607721
Tags
Green Green List (high evidence)
SLC37A4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation
  • liver dysfunction
  • coagulation deficiency
Tags
Green Green List (high evidence)
SMAD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 6, MIM# 619656
  • Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Tags
Green Green List (high evidence)
SMAD3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMAD4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMAD6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMARCA4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMARCB1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMARCE1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMC1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMC3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 3, MIM# 610759
Tags
Green Green List (high evidence)
SMG9
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heart and brain malformation syndrome, MIM# 616920
Tags
Green Green List (high evidence)
SMO
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, congenital heart disease, polydactyly, aganglionosis
  • Pallister-Hall-like syndrome , MIM#241800
Tags
Green Green List (high evidence)
SMPD4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622
Tags
Green Green List (high evidence)
SON
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • ZTTK syndrome, MIM# 617140
Tags
Green Green List (high evidence)
SOS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 4, MIM# 610733
Tags
Green Green List (high evidence)
SPEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Radio-Tartaglia syndrome MIM#619312
Tags
Green Green List (high evidence)
SPRED2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 14, MIM# 619745
Tags
Green Green List (high evidence)
STK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868
  • CD4/CD8 lymphopaenia
  • cardiac malformations
  • reduced naïve T cells
  • increased TEM and TEMRA cells
  • poor T cell Proliferation
  • Reduced memory B cells
  • Reduced IgM, increased IgG, IgA, IgE
  • impaired antibody responses
  • intermittent neutropaenia
  • bacterial/ viral/ fungal infections
  • autoimmune cytopaenias
  • mucocutaneous candidiasis
  • cutaneous warts
Tags
Green Green List (high evidence)
STRA6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 9, MIM# 601186
Tags
Green Green List (high evidence)
TAB2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like
  • Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Tags
Green Green List (high evidence)
TBX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • DiGeorge syndrome (MIM#188400)
Tags
Green Green List (high evidence)
TBX20
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial septal defect 4, MIM# 611363
Tags
Green Green List (high evidence)
TBX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ulnar-mammary syndrome, MIM# 181450
Tags
Green Green List (high evidence)
TBX5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Holt-Oram syndrome, MIM# 142900
Tags
Green Green List (high evidence)
TFAP2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Char syndrome, MIM# 169100
  • Patent ductus arteriosus 2, MIM# 617035
Tags
Green Green List (high evidence)
TGFBR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Loeys-Dietz syndrome 1, MIM# 609192
Tags
Green Green List (high evidence)
TGFBR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Loeys-Dietz syndrome 2, MIM# 610168
Tags
Green Green List (high evidence)
THOC6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Beaulieu-Boycott-Innes syndrome (OMIM#613680)
Tags
Green Green List (high evidence)
TLL1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial septal defect 6 MIM#613087
Tags
Green Green List (high evidence)
TMEM260
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Structural heart defects and renal anomalies syndrome, MIM# 617478
Tags
Green Green List (high evidence)
TMEM94
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 30526868
Tags
Green Green List (high evidence)
TRAF7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
Tags
Green Green List (high evidence)
TTC25
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • primary ciliary dyskinesia 35 MONDO:0014910
Tags
  • new gene name
Green Green List (high evidence)
TXNL4A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Burn-McKeown syndrome - MIM#608572
Tags
  • SV/CNV
  • UTR
Green Green List (high evidence)
UBR1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Johanson-Blizzard syndrome (MIM#243800)
Tags
Green Green List (high evidence)
UBR7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Li-Campeau syndrome, MIM# 619189
  • Intellectual disability
  • epilepsy
  • hypothyroidism
  • congenital anomalies
  • dysmorphic features
Tags
Green Green List (high evidence)
WASHC5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome - MIM#220210
  • Ventricular septal defect
  • Atrial septal defect
  • Tetralogy of Fallot
  • Double outlet right ventricle
  • Hypoplastic left heart
  • Aortic stenosis
  • Pulmonic stenosis
Tags
Green Green List (high evidence)
WBP11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227
Tags
Green Green List (high evidence)
WLS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Zaki syndrome, MIM#619648
Tags
Green Green List (high evidence)
ZEB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mowat-Wilson syndrome, MIM# 235730
  • MONDO:0009341
Tags
  • SV/CNV
Green Green List (high evidence)
ZIC3
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 1, X-linked (MIM#306955)
Tags
Green Green List (high evidence)
ZMYM2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522
Tags
Green Green List (high evidence)
ZMYND10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Primary ciliary dyskinesia 22 MONDO:0014192
Tags
Green Green List (high evidence)
ZMYND8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related
  • Delayed speech and language development
  • Motor delay
  • Intellectual disability
  • Abnormality of cardiovascular system morphology
  • Hearing abnormality
  • Abnormality of vision
  • Abnormality of the face
  • Seizures
Tags
Green Green List (high evidence)
ZNF699
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • DEGCAGS syndrome, MIM# 619488
Tags
Amber Amber List (moderate evidence)
BCL9L
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Literature
  • Other
Phenotypes
  • Congenital Heart Disease
  • Heterotaxy
Tags
Amber Amber List (moderate evidence)
FBRSL1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Malformation and intellectual disability syndrome
Tags
Amber Amber List (moderate evidence)
FOXH1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart disease, MONDO:0005453, FOXH1-related
Tags
Amber Amber List (moderate evidence)
FOXP1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670
  • Atrial septal defect
  • Atrioventricular septal defect
  • Patent ductus arteriosus
  • Pulmonic stenosis
  • Hypoplastic left heart syndrome
Tags
Amber Amber List (moderate evidence)
GATA5
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects, multiple types, 5 - #617912
Tags
Amber Amber List (moderate evidence)
HAND1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart disease, MONDO:0005453
Tags
Amber Amber List (moderate evidence)
HAND2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart disease, MONDO:0005453, HAND2-related
Tags
Amber Amber List (moderate evidence)
LAMA3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ebstein anomaly MONDO:0009144
Tags
Amber Amber List (moderate evidence)
MESP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart disease, MONDO:0005453, MESP1-related
Tags
Amber Amber List (moderate evidence)
MIB1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Congenital heart disease
Tags
Amber Amber List (moderate evidence)
MMP15
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cholestasis
  • Congenital heart disease
Tags
Amber Amber List (moderate evidence)
MYBPC3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 4, MIM# 115197
Tags
Amber Amber List (moderate evidence)
MYOCD
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Megabladder
  • congenital heart disease
  • cardiomyopathy
Tags
Amber Amber List (moderate evidence)
NODAL
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 5 (MIM#270100)
Tags
  • disputed
Amber Amber List (moderate evidence)
PIGV
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Hyperphosphatasia with impaired intellectual development syndrome 1, MIM# 239300
Tags
Amber Amber List (moderate evidence)
RBFOX2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Hypoplastic left heart syndrome (HLHS) MONDO:0004933
Tags
Amber Amber List (moderate evidence)
ROBO4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aortic valve disease 8, MIM# 618496
  • bicuspid aortic valve
  • ascending aortic aneurysm
  • ascending aorta dilatation
Tags
Amber Amber List (moderate evidence)
TAF1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mental retardation, X-linked, syndromic 33 300966
  • congenital cardiac disease and global developmental delay
Tags
Amber Amber List (moderate evidence)
TBX2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223
Tags
Amber Amber List (moderate evidence)
TKT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Short stature, developmental delay, and congenital heart defects
  • OMIM #617044
Tags
Amber Amber List (moderate evidence)
ZFPM2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Tetralogy of Fallot, MIM# 187500
Tags
Red Red List (low evidence)
ACVR2B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 4, autosomal 613751
Tags
Red Red List (low evidence)
BMPR2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600 Pulmonary venoocclusive disease 1 MIM#265450
Tags
Red Red List (low evidence)
CHST14
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Tags
Red Red List (low evidence)
CRELD1
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrioventricular septal defect, susceptibility to, 2
  • Atrioventricular septal defect, partial, with heterotaxy syndrome MIM#606217
Tags
Red Red List (low evidence)
HEY2
1 review
1 red 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital heart defects and thoracic aortic aneurysms
Tags
Red Red List (low evidence)
IRX4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Ventricular septal defect
Tags
Red Red List (low evidence)
KMT2B
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia 28,Childhood-onset
  • DYT28(617284)
  • Intellectual Developmental disorder, Autosomal dominant
  • MRD68(619934)
Tags
Red Red List (low evidence)
LTBP2
2 reviews
2 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Atrioventricular septal defect (AVSD)
  • Mitral valve prolapse
  • patent ductus arteriosus (PDA)
  • secondary atrial septal defect
  • pulmonary hypertension
  • polydactyly
Tags
Red Red List (low evidence)
MCF2L
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • vascular malformation MONDO:0024291, MCF2L-related
Tags
Red Red List (low evidence)
MEF2C
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags

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