PanelApp
  1. Panels
  2. Limb and Digital Malformations SuperPanel
Description
This is a superpanel containing genes associated with non-syndromic and syndromic limb and digital malformations.

303 Entities

269 reviewed, 269 green

List Entity Reviews Mode of inheritance Details
303 Entitiess
Green Green List (high evidence)
ACVR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fibrodysplasia ossificans progressiva 135100
Tags
  • clinical trial
Green Green List (high evidence)
ADAMTS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Weill-Marchesani syndrome 1, recessive, 277600
Tags
Green Green List (high evidence)
ADAMTS17
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Weill-Marchesani syndrome type 4
Tags
Green Green List (high evidence)
AFF4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Other
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CHOPS syndrome MIM#616368
Tags
Green Green List (high evidence)
AHI1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 3, MIM# 608629
Tags
Green Green List (high evidence)
AKT3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Tags
Green Green List (high evidence)
ANKRD11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • KBG syndrome 148050
Tags
Green Green List (high evidence)
ARHGAP31
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Adams-Oliver syndrome 1 100300
Tags
Green Green List (high evidence)
ARID1A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Coffin-Siris
Tags
Green Green List (high evidence)
ARID1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Coffin-Siris syndrome type 1 - 135900
Tags
Green Green List (high evidence)
ARL6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 3, MIM# 600151
Tags
Green Green List (high evidence)
B3GLCT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Peters-plus syndrome 261540
Tags
Green Green List (high evidence)
B9D1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliopathy, MONDO:0005308, B9D1-related
Tags
Green Green List (high evidence)
B9D2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 34, MIM#614175
  • Meckel syndrome 10, MIM#614175
Tags
Green Green List (high evidence)
BBS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 1, MIM# 209900
Tags
Green Green List (high evidence)
BBS10
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BBS12
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BBS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BBS4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 4, MIM#615982
  • MONDO:0014433
Tags
Green Green List (high evidence)
BBS5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 5, MIM#615983
  • MONDO:0014434
Tags
Green Green List (high evidence)
BBS7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 7, MIM# 615984
  • MONDO:0014435
Tags
Green Green List (high evidence)
BBS9
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 9, MIM#615986
  • MONDO:0014437
Tags
Green Green List (high evidence)
BHLHA9
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432
Tags
Green Green List (high evidence)
BMP2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Brachydactyly, type A2 112600
  • short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.
Tags
Green Green List (high evidence)
BMP4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
BMPR1B
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acromesomelic dysplasia, Demirhan type 609441
  • Brachydactyly, type A1, D 616849
  • Brachydactyly, type A2 112600
Tags
Green Green List (high evidence)
BRCA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group D1, MIM# 605724
Tags
Green Green List (high evidence)
BRIP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group J, MIM# 609054
Tags
  • treatable
Green Green List (high evidence)
C2CD3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
C5orf42
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 17, MIM# 614615
  • MONDO:0013824
  • Orofaciodigital syndrome VI, MIM# 277170
Tags
  • new gene name
Green Green List (high evidence)
CACNA1C
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Timothy syndrome MIM#601005
Tags
Green Green List (high evidence)
CC2D2A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
CCND2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
CDH3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Tags
Green Green List (high evidence)
CENPF
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
CEP120
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Tags
Green Green List (high evidence)
CEP164
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome
  • Nephronophthisis 15, MIM# 614845
  • Oro-facio-digital syndrome
Tags
Green Green List (high evidence)
CEP290
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CEP41
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
CHSY1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
Tags
Green Green List (high evidence)
CKAP2L
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
CREBBP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rubinstein-Taybi syndrome 180849
Tags
Green Green List (high evidence)
CSPP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 21, MIM# 615636
  • MONDO:0014288
Tags
Green Green List (high evidence)
DDX59
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome V (MIM#174300)
Tags
Green Green List (high evidence)
DHCR7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Smith-Lemli-Opitz syndrome - MIM#270400
Tags
Green Green List (high evidence)
DHCR7
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Green Green List (high evidence)
DHODH
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Miller syndrome (postaxial acrofacial dysostosis) 263750
Tags
Green Green List (high evidence)
DLL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Adams-Oliver syndrome 6, 616589
Tags
Green Green List (high evidence)
DLX5
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Tags
Green Green List (high evidence)
DOCK6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adams-Oliver syndrome 2 614219
Tags
Green Green List (high evidence)
DPF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coffin-Siris syndrome 7 MIM#618027
Tags
Green Green List (high evidence)
DVL1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
Phenotypes
  • Robinow syndrome, autosomal dominant 2, MIM# 616331
Tags
Green Green List (high evidence)
DVL3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Robinow syndrome, autosomal dominant 3, 616894
Tags
Green Green List (high evidence)
DYNC1I1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related
Tags
  • SV/CNV
Green Green List (high evidence)
DYNC2H1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
  • MONDO:0013127
Tags
Green Green List (high evidence)
DYNC2LI1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Tags
Green Green List (high evidence)
EBP
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
EOGT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adams Oliver syndrome 4
Tags
Green Green List (high evidence)
EP300
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Rubinstein-Taybi syndrome 180849
Tags
Green Green List (high evidence)
ERCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi aanemia, complementation group Q, MIM# 615272
  • MONDO:0014108
Tags
Green Green List (high evidence)
ESCO2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Roberts syndrome 268300
  • SC phocomelia syndrome 269000
  • Juberg-Hayward syndrome, MIM# 216100
Tags
Green Green List (high evidence)
ESCO2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SC phocomelia syndrome 269000
  • Roberts syndrome 268300
Tags
Green Green List (high evidence)
EVC
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
EVC2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
FAAP100
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi anaemia, complementation group X, MIM# 621258
Tags
Green Green List (high evidence)
FAM58A
0 reviews
 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
Phenotypes
  • STAR syndrome 300707
Tags
Green Green List (high evidence)
FANCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group A, MIM# 227650
  • MONDO:0009215
Tags
Green Green List (high evidence)
FANCB
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group B, MIM# 300514
  • MONDO:0010351
Tags
Green Green List (high evidence)
FANCC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group C, MIM# 227645
  • MONDO:0009213
Tags
Green Green List (high evidence)
FANCD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group D2, MIM# 227646
  • MONDO:0009214
Tags
Green Green List (high evidence)
FANCE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group E, MIM# 600901
  • MONDO:0010953
Tags
Green Green List (high evidence)
FANCF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group F 603467
  • MONDO:0011325
Tags
Green Green List (high evidence)
FANCG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group G, MIM# 614082
  • MONDO:0013565
Tags
Green Green List (high evidence)
FANCI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group I, MIM# 609053
  • MONDO:0012186
Tags
Green Green List (high evidence)
FANCL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group L, MIM# 614083
  • MONDO:0013566
Tags
Green Green List (high evidence)
FAT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • facial dysmorphism
  • colobomatous microphthalmia
  • ptosis
  • syndactyly with or without nephropathy
Tags
Green Green List (high evidence)
FBN1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Marfan syndrome 154700
  • Weill-Marchesani syndrome 2, dominant 608328
  • Stiff skin syndrome 184900
  • Acromicric dysplasia 102370
  • Geleophysic dysplasia 2 614185
Tags
Green Green List (high evidence)
FGF10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lacrimoauriculodentodigital syndrome (149730)
  • Aplasia of lacrimal and salivary glands (180920)
Tags
Green Green List (high evidence)
FGF10
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
FGF9
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple synostoses syndrome type 3 612961
Tags
Green Green List (high evidence)
FGFR1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
FGFR2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
FGFR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • LADD syndrome, MIM#149730
Tags
Green Green List (high evidence)
FGFR3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
FGFR3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • LADD syndrome, MIM#149730
Tags
Green Green List (high evidence)
FIG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Yunis-Varon syndrome, MIM# 216340
Tags
Green Green List (high evidence)
FIG4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Yunis-Varon syndrome 216340
  • Amyotrophic lateral sclerosis 11 612577
Tags
Green Green List (high evidence)
FLNA
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 list
  • Expert Review Green
Phenotypes
  • Osteodysplasty Melnick Needles 309350 XLD
  • Otopalatodigital syndrome, type II 304120 XLD
  • Frontometaphyseal dysplasia 305620
  • Terminal osseous dysplasia 300244
  • Otopalatodigital syndrome, type I -311300
Tags
Green Green List (high evidence)
FLNA
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
  • Expert list
Phenotypes
  • Melnick-Needles syndrome, 309350
Tags
Green Green List (high evidence)
FLVCR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Tags
Green Green List (high evidence)
FRAS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
FREM2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
FZD2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autosomal dominant omodysplasia 164745
  • Autosomal dominant omodysplasia type 2 164745
Tags
Green Green List (high evidence)
GDF5
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
GDF5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brachydactyly, type A1, C, MIM# 615072
  • Brachydactyly, type A2 MIM#112600
  • Brachydactyly, type C, MIM# 113100
  • Symphalangism, proximal, 1B, MIM# 615298
Tags
Green Green List (high evidence)
GDF6
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple synostoses syndrome type 4 - 617898.
  • Klippel-Feil syndrome 1, autosomal dominant 118100
Tags
Green Green List (high evidence)
GJA1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypoplastic left heart syndrome 1 241550
  • Syndactyly, type III 186100
  • Oculodentodigital dysplasia 164200
  • Palmoplantar keratoderma with congenital alopecia 104100
  • Craniometaphyseal dysplasia, autosomal recessive 218400
  • Erythrokeratodermia variabilis et progressiva 133200
  • Oculodentodigital dysplasia, autosomal recessive 257850
Tags
Green Green List (high evidence)
GLI1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polydactyly, postaxial, type A8 MIM#618123
  • Polydactyly, preaxial I MIM#174400
Tags
Green Green List (high evidence)
GLI2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
GLI3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Greig cephalopolysyndactyly syndrome, MIM# 175700
  • Pallister-Hall syndrome, MIM# 146510
  • Polydactyly, postaxial, types A1 and B, MIM# 174200
  • Polydactyly, preaxial, type IV, MIM# 174700
Tags
Green Green List (high evidence)
GNAS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • McCune-Albright syndrome, somatic, mosaic 174800
  • ACTH-independent macronodular adrenal hyperplasia 219080 IC
  • Osseous heteroplasia, progressive 166350
  • Pseudohypoparathyroidism Ic 612462
  • Pseudopseudohypoparathyroidism 612463
  • Pseudohypoparathyroidism Ia 103580
  • Pseudohypoparathyroidism Ib 603233
Tags
Green Green List (high evidence)
GPC3
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
GRIP1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
GSC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471
Tags
Green Green List (high evidence)
HDAC8
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
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 5, MIM# 300882
Tags
Green Green List (high evidence)
HDAC8
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 list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wilson-Turner syndrome 309585
  • Cornelia de Lange syndrome 5 300882
Tags
Green Green List (high evidence)
HMGB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905
Tags
Green Green List (high evidence)
HNRNPK
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
HOXA13
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hand-foot-uterus syndrome, MIM# 140000
Tags
Green Green List (high evidence)
HOXA13
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
HOXD13
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200
  • Syndactyly, type V, MIM# 186300
  • Synpolydactyly 1, MIM# 186000
  • Brachydactyly-syndactyly syndrome, MIM# 610713
Tags
Green Green List (high evidence)
HOXD13
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Synpolydactyly 1, MIM# 186000
Tags
Green Green List (high evidence)
HYLS1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hydrolethalus syndrome (MIM#236680)
Tags
  • founder
Green Green List (high evidence)
ICK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Endocrine-cerebroosteodysplasia, MIM# 612651
Tags
Green Green List (high evidence)
IFT140
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
Tags
Green Green List (high evidence)
IFT172
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFT27
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
IFT43
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
IFT52
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
Tags
Green Green List (high evidence)
IFT80
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
IHH
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Brachydactyly, type A1 112500
  • Acrocapitofemoral dysplasia 607778
Tags
Green Green List (high evidence)
INPP5E
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
IQCE
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Postaxial polydactyly
Tags
Green Green List (high evidence)
KDM6A
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 Review Green
  • Expert list
Phenotypes
  • Kabuki syndrome 2 MIM#300867
Tags
Green Green List (high evidence)
KIAA0586
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
KIAA0825
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polydactyly, postaxial, type A10, MIM# 618498
Tags
Green Green List (high evidence)
KIF7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
KMT2A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Wiedemann-Steiner syndrome MIM#605130
Tags
Green Green List (high evidence)
KMT2D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kabuki syndrome 1 - 147920
Tags
Green Green List (high evidence)
LBR
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Greenberg skeletal dysplasia, MIM# 215140
Tags
Green Green List (high evidence)
LEF1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224
Tags
Green Green List (high evidence)
LEF1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224
Tags
Green Green List (high evidence)
LMBR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Laurin-Sandrow syndrome, MIM# 135750
Tags
  • SV/CNV
Green Green List (high evidence)
LMBR1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Polydactyly, preaxial type II, MIM# 174500
Tags
Green Green List (high evidence)
LRP4
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Sclerosteosis 2 614305
  • Cenani-Lenz syndactyly syndrome 212780
Tags
Green Green List (high evidence)
LTBP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Geleophysic dysplasia 3 617809
  • Dental anomalies and short stature 610216
Tags
Green Green List (high evidence)
LZTFL1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
MAP3K20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Split-foot malformation with mesoaxial polydactyly MIM#616890
Tags
Green Green List (high evidence)
MAPKAPK5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurocardiofaciodigital syndrome, MIM# 619869
Tags
Green Green List (high evidence)
MAX
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polydactyly-macrocephaly syndrome, MIM# 620712
Tags
Green Green List (high evidence)
MBTPS2
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
MECOM
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738
  • Radioulnar synostosis without hematological aberration, no OMIM #
Tags
Green Green List (high evidence)
MEGF8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
MGP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Keutel syndrome 245150
Tags
Green Green List (high evidence)
MKKS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
MKS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MYCN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Megalencephaly-polydactyly syndrome, MIM# 620748
Tags
Green Green List (high evidence)
MYCN
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Megalencephaly-polydactyly syndrome, MIM# 620748
  • Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Tags
Green Green List (high evidence)
NECTIN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060
Tags
Green Green List (high evidence)
NECTIN4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia-syndactyly syndrome 1 MIM#613573
Tags
Green Green List (high evidence)
NEK1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Tags
Green Green List (high evidence)
NIPBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome 1 122470
Tags
Green Green List (high evidence)
NIPBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 1, MIM# 122470
Tags
Green Green List (high evidence)
NOG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • NOG-related symphalangism spectrum disorder MONDO:0100521
Tags
Green Green List (high evidence)
NOTCH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Limb, scalp and skull defects
  • AOS
  • Adams-Oliver syndrome 5, 616028
  • Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)
Tags
Green Green List (high evidence)
NPHP3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
NPM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • radial ray defects
  • short stature
  • nail dsytrophy
  • bone marrow failure
Tags
Green Green List (high evidence)
NSDHL
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
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CK syndrome 300831
  • Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
Tags
Green Green List (high evidence)
NXN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Robinow syndrome, autosomal recessive 2 MIM#618529
Tags
Green Green List (high evidence)
OFD1
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PALB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group N, MIM# 610832
Tags
Green Green List (high evidence)
PDE3A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypertension and brachydactyly syndrome, 112410
Tags
Green Green List (high evidence)
PDE4D
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acrodysostosis 2, with or without hormone resistance 614613
Tags
Green Green List (high evidence)
PGM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 23 615816
Tags
Green Green List (high evidence)
PHF6
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
  • Expert list
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome MIM#301900
Tags
Green Green List (high evidence)
PIGV
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1 239300
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
 Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501
Tags
  • somatic
Green Green List (high evidence)
PIK3R2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
PITX1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
POLR1A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrofacial dysostosis, Cincinnati type 616462
Tags
Green Green List (high evidence)
PORCN
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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)
PRKAR1A
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myxoma, intracardiac 255960
  • Acrodysostosis 1, with or without hormone resistance 101800
  • Pigmented nodular adrenocortical disease, primary, 1 610489
Tags
Green Green List (high evidence)
PRMT7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Tags
Green Green List (high evidence)
PTDSS1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lenz-Majewski hyperostotic dwarfism 151050
Tags
Green Green List (high evidence)
PTHLH
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Brachydactyly, type E2 613382
Tags
Green Green List (high evidence)
RAB23
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
RAB34
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome 20, MIM#620718
Tags
Green Green List (high evidence)
RAB34
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome 20, MIM#620718
Tags
Green Green List (high evidence)
RAD21
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 4, MIM# 614701
Tags
Green Green List (high evidence)
RAD21
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 4 614701
Tags
Green Green List (high evidence)
RAD51C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group O, MIM# 613390
Tags
Green Green List (high evidence)
RBM10
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
RBM8A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopenia-absent radius syndrome, MIM# 274000
Tags
  • SV/CNV
Green Green List (high evidence)
RBM8A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombocytopenia-absent radius syndrome 274000
Tags
Green Green List (high evidence)
RBPJ
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adams-Oliver syndrome 3, 614814
Tags
Green Green List (high evidence)
RECQL4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Rothmund-Thomson syndrome 268400
  • RAPILINO syndrome 266280
  • Baller-Gerold syndrome 218600
Tags
Green Green List (high evidence)
RECQL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Baller-Gerold syndrome, MIM# 218600
  • RAPADILINO syndrome, MIM# 266280
  • Rothmund-Thomson syndrome, type 2,MIM# 268400
Tags
Green Green List (high evidence)
ROR2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Robinow syndrome, autosomal recessive 268310
  • Brachydactyly, type B1 113000
Tags
Green Green List (high evidence)
RPGRIP1L
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
RPL11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 7, MIM# 612562
  • MONDO:0012938
Tags
Green Green List (high evidence)
RPL15
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 12, MIM# 615550
Tags
Green Green List (high evidence)
RPL26
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 11, MIM# 614900
Tags
Green Green List (high evidence)
RPL35A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 5, MIM# 612528
  • MONDO:0012925
Tags
  • SV/CNV
Green Green List (high evidence)
RPL5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 6, MIM# 612561
  • MONDO:0012937
Tags
Green Green List (high evidence)
RPS10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 9, MIM# 613308
  • MONDO:0013216
Tags
Green Green List (high evidence)
RPS17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 4, MIM# 612527
  • MONDO:0012924
Tags
Green Green List (high evidence)
RPS19
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 1, MIM# 105650
  • MONDO:0007110
Tags
Green Green List (high evidence)
RPS24
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-blackfan anaemia 3, MIM# 610629
  • MONDO:0012529
Tags
Green Green List (high evidence)
RPS26
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 10, MIM# 613309
  • MONDO:0013217
Tags
Green Green List (high evidence)
RPS7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 8, MIM# 612563
  • MONDO:0012939
Tags
Green Green List (high evidence)
RSG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, RSG1-related
Tags
Green Green List (high evidence)
SALL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Townes-Brocks syndrome 1, MIM#107480
  • MONDO:0054581
Tags
Green Green List (high evidence)
SALL1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
SALL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Duane-radial ray syndrome, MIM# 607323
  • MONDO:0011812
  • IVIC syndrome, MIM# 147750
  • MONDO:0007836
Tags
Green Green List (high evidence)
SALL4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
SC5D
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
SCNM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome XIX, MIM# 620107
Tags
Green Green List (high evidence)
SF3B4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Acrofacial dysostosis 1, Nager type, MIM# 154400
Tags
Green Green List (high evidence)
SF3B4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrofacial dysostosis 1, Nager type 154400
Tags
Green Green List (high evidence)
SHH
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
SHOX
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
  • Expert list
Phenotypes
  • Leri-Weill dyschondrosteosis, MIM# 127300
  • Langer mesomelic dysplasia, MIM#249700
Tags
Green Green List (high evidence)
SLX4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group P, MIM# 613951
  • MONDO:0013499
Tags
Green Green List (high evidence)
SMAD4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myhre syndrome 139210
Tags
Green Green List (high evidence)
SMARCA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Nicolaides-Baraitser syndrome MIM#601358
Tags
Green Green List (high evidence)
SMARCA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coffin-Siris syndrome 4 MIM#614609
Tags
Green Green List (high evidence)
SMARCB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coffin-Siris syndrome 3 MIM#614608
Tags
Green Green List (high evidence)
SMARCE1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coffin-Siris syndrome 5 MIM#616938
Tags
Green Green List (high evidence)
SMC1A
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
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 2, MIM# 300590
Tags
Green Green List (high evidence)
SMC1A
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 2 300590
Tags
Green Green List (high evidence)
SMC3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 3, MIM# 610759
Tags
Green Green List (high evidence)
SMC3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome 3 610759
Tags
Green Green List (high evidence)
SMO
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, congenital heart disease, polydactyly, aganglionosis
  • Pallister-Hall-like syndrome , MIM#241800
  • Curry-Jones syndrome, somatic mosaic 601707
Tags
Green Green List (high evidence)
SMOC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
SOST
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Van Buchem disease 239100
  • Sclerosteosis 1 269500
  • Craniodiaphyseal dysplasia, autosomal dominant 122860
Tags
Green Green List (high evidence)
SOX9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Campomelic dysplasia with autosomal sex reversal 114290
Tags
Green Green List (high evidence)
SPINT2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420
  • MONDO:0010036
Tags
  • founder
Green Green List (high evidence)
TBX15
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cousin syndrome 260660
Tags
Green Green List (high evidence)
TBX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ulnar-mammary syndrome, MIM# 181450
  • MONDO:0008411
Tags
Green Green List (high evidence)
TBX3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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)
TBX5
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
TCTEX1D2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Tags
Green Green List (high evidence)
TCTN2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 24, MIM# 616654
  • MONDO:0014724
  • Meckel syndrome 8, MIM# 613885
  • MONDO:0013482
Tags
Green Green List (high evidence)
TCTN3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
TFAP2A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
TFAP2B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
TGDS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Catel-Manzke syndrome 616145
Tags
Green Green List (high evidence)
TMEM107
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Meckel syndrome 13 MIM#617562
  • Orofaciodigital syndrome XVI MIM#617563
Tags
Green Green List (high evidence)
TMEM138
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
TMEM17
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Meckel syndrome MONDO:0018921, TMEM17-related
Tags
Green Green List (high evidence)
TMEM216
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
TMEM231
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
TMEM237
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 14, MIM# 614424
Tags
Green Green List (high evidence)
TMEM67
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
TP63
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001
Tags
Green Green List (high evidence)
TRAF3IP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Senior-Loken syndrome 9, MIM# 616629
  • MONDO:0014712
Tags
Green Green List (high evidence)
TRPS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichorhinophalangeal syndrome, type III 190351
  • Trichorhinophalangeal syndrome, type I 190350
Tags
Green Green List (high evidence)
TRPV4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Parastremmatic dwarfism 168400
  • Metatropic dysplasia 156530
  • Spinal muscular atrophy, distal, congenital nonprogressive 600175
  • Scapuloperoneal spinal muscular atrophy 181405
  • SED, Maroteaux type 184095
  • Spondylometaphyseal dysplasia, Kozlowski type 184252
  • Hereditary motor and sensory neuropathy, type IIc 606071
  • Brachyolmia type 3 113500
  • Digital arthropathy-brachydactyly, familial 606835
Tags
Green Green List (high evidence)
TTC21B
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
TTC8
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985
Tags
Green Green List (high evidence)
TWIST1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Robinow-Sorauf syndrome, MIM# 180750
Tags
Green Green List (high evidence)
UBA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • ACCES syndrome, MIM# 619959
  • Split-Hand/Foot Malformation
  • Aplasia Cutis Congenita
  • Ectrodactyly
Tags
Green Green List (high evidence)
UBE2T
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435
Tags
  • SV/CNV
Green Green List (high evidence)
UBE3B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kaufman oculocerebrofacial syndrome, MIM# 244450
  • MONDO:0009485
Tags
Green Green List (high evidence)
USP9X
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder 99 MIM#300919
  • syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Tags
Green Green List (high evidence)
WDPCP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
  • OFD
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Tags
Green Green List (high evidence)
WDR19
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
WDR34
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
WDR35
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cranioectodermal dysplasia 2, MIM#613610
  • MONDO:0013323
  • Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
  • MONDO:0013569
Tags
Green Green List (high evidence)
WDR60
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
WNT10B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Split-hand/foot malformation 6 225300
Tags
Green Green List (high evidence)
WNT5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Robinow syndrome, autosomal dominant 1 180700
Tags
Green Green List (high evidence)
WNT7A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Santos syndrome, MIM# 613005
  • Fuhrmann syndrome 228930
Tags
Green Green List (high evidence)
WNT7A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fuhrmann syndrome, MIM# 228930
  • Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820
Tags
Green Green List (high evidence)
ZIC3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • VACTERL association, X-linked 314390
Tags
Green Green List (high evidence)
ZRSR2
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome XXI, MIM# 301132
Tags
Green Green List (high evidence)
ZSWIM6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Amber Amber List (moderate evidence)
CD96
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
Phenotypes
  • C syndrome, MIM#211750
Tags
Amber Amber List (moderate evidence)
CHUK
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Popliteal pterygium syndrome, Bartsocas-Papas type 2 MIM#619339
  • Cocoon syndrome MIM#613630
Tags
Amber Amber List (moderate evidence)
EFCAB7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polydactyly (MONDO:0021003), EFCAB7-related
Tags
Amber Amber List (moderate evidence)
FAM92A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Polydactyly, postaxial, type A9, MIM# 618219
Tags
Amber Amber List (moderate evidence)
FMN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • oligosyndactyly
  • radioulnar synostosis
  • hearing loss
  • renal defects
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
HDAC4
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Albright hereditary osteodystrophy-like syndrome
  • Brachydactyly-intellectual disability
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
HOXD12
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Clubfoot (non-syndromic) MONDO:0007342
Tags
Amber Amber List (moderate evidence)
IFT57
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Bardet-Bield syndrome
  • ciliopathy - MONDO:0005308
Tags
Amber Amber List (moderate evidence)
PDE6D
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 22, OMIM #615665
Tags
Amber Amber List (moderate evidence)
RAD51
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Fanconi anaemia, complementation group R, MIM# 617244
Tags
Amber Amber List (moderate evidence)
RFWD3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Fanconi anemia MONDO:0019391
Tags
Amber Amber List (moderate evidence)
RPS29
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 13, MIM# 615909
Tags
Amber Amber List (moderate evidence)
SLC30A7
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome (MONDO:0018772), SLC30A7-related
Tags
Amber Amber List (moderate evidence)
TOPORS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • MONDO:0005308
  • ciliopathy
  • postaxial polydactyly
  • multiple lingual hamartomas
  • dysmorphic features
Tags
Red Red List (low evidence)
ALMS1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Alstrom syndrome, MIM#203800
Tags
Red Red List (low evidence)
ALX3
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 1, MIM#136760
Tags
Red Red List (low evidence)
ARMC8
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
DACT1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Townes-Brocks syndrome 2 (OMIM #617466)
Tags
Red Red List (low evidence)
DLX6
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Split-hand/foot malformation 1 183600
Tags
Red Red List (low evidence)
FANCM
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia
Tags
  • refuted
Red Red List (low evidence)
FBLN1
2 reviews
2 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
Tags
Red Red List (low evidence)
FBXW4
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Split-hand/foot malformation 3 syndrome 246560
Tags
Red Red List (low evidence)
GATA1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
IFT57
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Orofaciodigital syndrome XVIII MIM#617927
Tags
Red Red List (low evidence)
LRP4
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cenani-Lenz syndactyly syndrome, MIM# 212780
  • Sclerosteosis 2, MIM# 614305
Tags
Red Red List (low evidence)
LTBP2
2 reviews
1 green 1 red 		Unknown
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Weill-Marchesani
Tags
Red Red List (low evidence)
PNPLA6
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Laurence-Moon syndrome - MIM#245800
  • Boucher-Neuhauser syndrome - MIM#215470
  • Oliver-McFarlane syndrome - #275400
  • Spastic paraplegia 39, autosomal recessive - #612020
Tags
Red Red List (low evidence)
PROM1
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cone-rod dystrophy 12, MIM# 612657
  • Macular dystrophy, retinal, 2, MIM# 608051
  • Retinitis pigmentosa 41, MIM# 612095
  • Stargardt disease 4, MIM# 603786
Tags
Red Red List (low evidence)
RPS28
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Tags
Red Red List (low evidence)
SDCCAG8
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 16, MIM# 615993
Tags
Red Red List (low evidence)
TBX22
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate with ankyloglossia, MIM# 303400
  • Abruzzo-Erickson syndrome, MIM# 302905
Tags
Red Red List (low evidence)
TRIM32
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988
Tags
Red Red List (low evidence)
WNT3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Tetra-amelia syndrome 273395
Tags
Red Red List (low evidence)
ZNF141
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly, postaxial, type A6, MIM# 615226
Tags

Downloads

Download lists

Download Version