PanelApp (test)
  1. Panels
  2. Skeletal Dysplasia_Fetal
Description
This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.

It contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.

Please consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.
Panel Activity

18 reviewers

  • George McGillivray (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Konstantinos Varvagiannis (Other)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

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

  • Daniel Flanagan (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

155 Entities

155 reviewed, 144 green

List Entity Reviews Mode of inheritance Details
155 Entitiess
Green Green List (high evidence)
ACAN
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
  • Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800
Tags
Green Green List (high evidence)
ACP5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944
Tags
Green Green List (high evidence)
ADAMTSL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Geleophysic dysplasia 1-MIM#231050
Tags
Green Green List (high evidence)
AGPS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
Tags
Green Green List (high evidence)
ALG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Id - MIM#26126960
Tags
Green Green List (high evidence)
ALG9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Il, MIM#608776
  • Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Tags
Green Green List (high evidence)
ALPL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphatasia, infantile MIM# 241500
Tags
  • treatable
Green Green List (high evidence)
ARSE
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Tags
  • new gene name
Green Green List (high evidence)
B3GAT3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600
Tags
Green Green List (high evidence)
B3GLCT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peters-plus syndrome-MIM#261540
Tags
Green Green List (high evidence)
B4GALT7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1-MIM#130070
Tags
Green Green List (high evidence)
BMP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XIII , MIM#614856
Tags
Green Green List (high evidence)
BMPER
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Diaphanospondylodysostosis, MIM#608022
Tags
Green Green List (high evidence)
C21orf2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylometaphyseal dysplasia, axial, MIM# 602271
Tags
Green Green List (high evidence)
C2CD3
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome XIV, MIM# 615948
  • MONDO:0014413
Tags
Green Green List (high evidence)
CANT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Desbuquois dysplasia 1, MIM# 251450
Tags
Green Green List (high evidence)
CCDC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • 3-M syndrome 3 - MIM#614205
Tags
Green Green List (high evidence)
CEP120
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Tags
Green Green List (high evidence)
CHST3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations-MIM#143095
Tags
Green Green List (high evidence)
COL11A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Fibrochondrogenesis 1, MIM# 228520
  • Marshall syndrome, MIM# 154780
Tags
Green Green List (high evidence)
COL11A2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Fibrochondrogenesis 2, MIM# 614524
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Tags
Green Green List (high evidence)
COL1A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Caffey disease, MIM#114000
  • Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060
  • Osteogenesis imperfecta, type I, MIM#166200
  • Osteogenesis imperfecta, type II, MIM#166210
  • Osteogenesis imperfecta, type III, MIM#259420
  • Osteogenesis imperfecta, type IV, MIM#166220
Tags
Green Green List (high evidence)
COL1A2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120
  • Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821
  • Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320
  • Osteogenesis imperfecta, type II, MIM# 166210
  • Osteogenesis imperfecta, type III, MIM# 259420
  • Osteogenesis imperfecta, type IV, MIM# 166220
Tags
Green Green List (high evidence)
COL2A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Collagenopathy type 2 alpha 1, MONDO:0022800
Tags
Green Green List (high evidence)
CREB3L1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVI, 616229
Tags
Green Green List (high evidence)
CRTAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type VII MIM#610682
Tags
Green Green List (high evidence)
CSPP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 21, MIM# 615636
  • MONDO:0014288
Tags
Green Green List (high evidence)
CTSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Pycnodysostosis - MIM#265800
Tags
Green Green List (high evidence)
CUL7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • 3-M syndrome 1 - MIM#273750
  • Yakut short stature syndrome
Tags
Green Green List (high evidence)
CYP26B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies - MIM# 614416
Tags
Green Green List (high evidence)
DDR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665
Tags
Green Green List (high evidence)
DHCR7
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Smith-Lemli-Opitz syndrome, MIM#270400
Tags
Green Green List (high evidence)
DLL3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Tags
Green Green List (high evidence)
DONSON
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Microcephaly, short stature, and limb abnormalities, MIM# 617604
  • Microcephaly-micromelia syndrome, MIM# 251230
  • MONDO:0009619
Tags
Green Green List (high evidence)
DVL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Robinow syndrome, autosomal dominant 2 (MIM#616331)
Tags
Green Green List (high evidence)
DVL3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Robinow syndrome, autosomal dominant 3-MIM#616894
Tags
Green Green List (high evidence)
DYNC2H1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DYNC2LI1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
EBP
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
EN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • ENDOVE syndrome, limb-only type, MIM# 619217
  • ENDOVE syndrome, limb-brain type, MIM# 619218
Tags
  • 5'UTR
  • SV/CNV
Green Green List (high evidence)
ERI1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663
Tags
Green Green List (high evidence)
EVC
4 reviews
1 green 1 red 		Unknown
Sources
  • Expert Review
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
EVC2
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
EXTL3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425
Tags
Green Green List (high evidence)
FAM111A
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FAM20C
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FGFR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteoglophonic dysplasia-MIM#166250
Tags
Green Green List (high evidence)
FGFR2
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FGFR3
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FIG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Yunis-Varon syndrome - MIM#216340
Tags
Green Green List (high evidence)
FKBP10
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FLNA
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FLNB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FUZ
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy_MONDO_0005308, FUZ-related
  • skeletal ciliopathy
Tags
Green Green List (high evidence)
FZD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Omodysplasia 2, OMIM #164745
Tags
Green Green List (high evidence)
GDF5
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Grebe type chondrodysplasia (MIM#200700)
  • Du Pan syndrome (MIM#228900)
Tags
Green Green List (high evidence)
GLI3
2 reviews
1 green 		Unknown
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GNPAT
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GNPTAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mucolipidosis II alpha/beta - MIM#252500
Tags
Green Green List (high evidence)
GPC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Omodysplasia 1 - MIM#258315
Tags
Green Green List (high evidence)
GPX4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondylometaphyseal dysplasia, Sedaghatian type-MIM#250220
Tags
Green Green List (high evidence)
GSC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities - MIM#602471
Tags
Green Green List (high evidence)
HES7
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HHAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nivelon-Nivelon-Mabille syndrome 600092
Tags
Green Green List (high evidence)
HSPG2
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Schwartz-Jampel syndrome, type 1, MIM#255800
  • Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410
  • Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139)
Tags
Green Green List (high evidence)
ICK
2 reviews
2 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFITM5
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFT122
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Cranioectodermal dysplasia 1, MIM# 218330
  • MONDO:0021093
  • Beemer-Langer syndrome
Tags
Green Green List (high evidence)
IFT140
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFT172
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFT43
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFT52
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFT74
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Jeune syndrome (MONDO:0018770), IFT74-related
Tags
Green Green List (high evidence)
IFT80
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IHH
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
  • Acrocapitofemoral dysplasia - MIM#607778
  • Brachydactyly, type A1 - MIM#112500
Tags
Green Green List (high evidence)
IMPAD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type-MIM#614078
Tags
Green Green List (high evidence)
INPPL1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KIAA0586
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • Literature
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 23 MIM#616490
  • Short-rib thoracic dysplasia 14 with polydactyly MIM#616546
Tags
Green Green List (high evidence)
KIAA0753
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479
  • ?Orofaciodigital syndrome XV - MIM#617127
  • Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479
Tags
Green Green List (high evidence)
KIF5B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Skeletal dysplasia, MONDO:0018230
  • KIF5B-related
  • Kyphomelic dysplasia
Tags
Green Green List (high evidence)
KIF7
1 review
 Unknown
Sources
  • Expert Review Amber
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LBR
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LFNG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 3, autosomal recessive, MIM#609813
Tags
Green Green List (high evidence)
LIFR
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LONP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CODAS syndrome - MIM#600373
Tags
Green Green List (high evidence)
LRP5
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LTBP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Geleophysic dysplasia 3 - MIM#617809
Tags
Green Green List (high evidence)
MATN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728
Tags
Green Green List (high evidence)
MBTPS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392
Tags
Green Green List (high evidence)
MEOX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Klippel-Feil syndrome 2, OMIM:214300
  • Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958
Tags
Green Green List (high evidence)
MESD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Osteogenesis imperfecta, type XX, MIM# 618644
Tags
Green Green List (high evidence)
MESP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)
Tags
Green Green List (high evidence)
MMP9
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Metaphyseal anadysplasia 2 - MIM# 613073
Tags
Green Green List (high evidence)
MNX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Currarino syndrome, MIM# 176450
Tags
Green Green List (high evidence)
NANS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type-MIM#610442
  • NANS-CDG
Tags
Green Green List (high evidence)
NBAS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly - MIM#614800
Tags
Green Green List (high evidence)
NEK1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NKX3-2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)
Tags
Green Green List (high evidence)
NSDHL
3 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
OFD1
1 review
 Unknown
Sources
  • Expert Review Amber
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
P3H1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PAM16
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
Tags
Green Green List (high evidence)
PCNT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II - MIM#210720
Tags
Green Green List (high evidence)
PEX7
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PLOD2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PLS3
1 review
 Unknown
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
POC1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
Tags
Green Green List (high evidence)
POP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Anauxetic dysplasia 2, OMIM:617396
  • Anauxetic dysplasia 2, MONDO:0054561
Tags
Green Green List (high evidence)
PPIB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PTH1R
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RAB34
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome 20, MIM#620718
Tags
Green Green List (high evidence)
RMRP
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RNU4ATAC
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ROR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Robinow syndrome, autosomal recessive - MIM#268310
Tags
Green Green List (high evidence)
SBDS
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SERPINH1
2 reviews
1 green 1 red 		Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SHOX
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Leri-Weill dyschondrosteosis, MIM# 127300
  • Langer mesomelic dysplasia, MIM#249700
Tags
Green Green List (high evidence)
SLC10A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - MIM#618363
Tags
Green Green List (high evidence)
SLC26A2
3 reviews
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC29A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome - MIM#602782
Tags
Green Green List (high evidence)
SLC35D1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMAD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Myhre syndrome - OMIM#139210
  • MONDO:0007688
Tags
Green Green List (high evidence)
SMARCAL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Schimke immunoosseous dysplasia (MIM#242900)
Tags
Green Green List (high evidence)
SOX9
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TAB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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)
TBX15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Cousin syndrome - MIM#260660
Tags
Green Green List (high evidence)
TBX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 5, 122600
Tags
Green Green List (high evidence)
TCTEX1D2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TCTN3
2 reviews
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TMEM38B
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TNFRSF11A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteopetrosis, autosomal recessive 7 - MIM# 612301
Tags
Green Green List (high evidence)
TRIP11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Achondrogenesis, type IA, MIM# 200600
Tags
Green Green List (high evidence)
TRPV4
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TRPV6
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TTC21B
3 reviews
2 green 1 red 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • KidGen_CilioNephronop v38.1.0
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WDR19
2 reviews
1 red 		Unknown
Sources
  • Expert list
  • Expert Review Amber
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WDR34
2 reviews
1 green 1 red 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WDR35
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WDR60
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WNT1
2 reviews
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WNT5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Robinow syndrome, autosomal dominant 1
  • OMIM# 180700
Tags
Green Green List (high evidence)
XYLT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Desbuquois dysplasia 2, MIM# 615777
  • Baratela-Scott syndrome
Tags
Green Green List (high evidence)
ZMPSTE24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612
  • MONDO:0012074
  • Restrictive dermopathy, lethal, MIM# 275210
  • MONDO:0010143
Tags
Green Green List (high evidence)
ZSWIM6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acromelic frontonasal dysostosis - MIM#603671
Tags
Amber Amber List (moderate evidence)
DHCR24
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Literature
Phenotypes
  • Desmosterolosis - MIM#602398
Tags
Amber Amber List (moderate evidence)
DNMT3A
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Heyn-Sproul-Jackson syndrome, MIM# 618724
Tags
Amber Amber List (moderate evidence)
GNPNAT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Tags
Amber Amber List (moderate evidence)
HYLS1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Hydrolethalus syndrome (MIM#236680)
Tags
  • founder
Amber Amber List (moderate evidence)
IFT81
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Tags
Amber Amber List (moderate evidence)
NPR2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Literature
Phenotypes
  • Acromesomelic dysplasia 1, Maroteaux type - MIM#602875
Tags
Red Red List (low evidence)
COG1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIg - MIM#611209
Tags
Red Red List (low evidence)
MMP13
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Metaphyseal anadysplasia 1 (MIM#602111)
Tags
Red Red List (low evidence)
NEK9
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Lethal congenital contracture syndrome 10, MIM# 617022
  • Skeletal dysplasia
Tags
  • founder
Red Red List (low evidence)
SERPINF1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
SP7
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XII, MIM# 613849
Tags

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