Description
Unexplained skeletal dysplasia eligibility statement:

Unexplained skeletal dysplasia inclusion criteria (36889)
Unexplained skeletal dysplasia as determined by one of the following:
•	Unknown/undefined skeletal dysplasia detected on skeletal survey by a radiologist with expertise in skeletal dysplasias [expertise is available via DREAMS (http://d-reams.org by contacting: DREAMS@sheffield.ac.uk] OR
•	Skeletal phenotype on skeletal survey consistent with a known disorder for which the common gene mutations for that disorder have been excluded

Unexplained skeletal dysplasia exclusion criteria (36889)
•	Known aetiology 
•	Disproportionate short stature with non-skeletal aetiology
•	Short stature (<0.4th centile) for other non-skeletal reason (e.g. growth hormone deficiency)
•	Skeletal dysplasia within remit of other 100,000 Genomes Project disorder

Prior genetic testing guidance (36889)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Unexplained skeletal dysplasia prior genetic testing genes (36889)
No genes listed

Closing statement (36889)
These requirements will be kept under continual review during the main programme and may be subject to change.

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachel Jones (GSTT)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

517 genes

404 reviewed, 340 green

List Gene Reviews Mode of inheritance Details
517 genes
Green Green List (high evidence)
ABCC9
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Hypertrichotic osteochondrodysplasia 239850
Green Green List (high evidence)
ACAN
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800
  • Spondyloepimetaphyseal dysplasia, aggrecan type 61283
  • Spondyloepiphyseal dysplasia, Kimberley type 608361
Green Green List (high evidence)
ACP5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation 607944
Green Green List (high evidence)
ACVR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Fibrodysplasia ossificans progressiva 135100
Green Green List (high evidence)
ADAMTSL2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Geleophysic dysplasia 1 231050
Green Green List (high evidence)
AGA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
Green Green List (high evidence)
AGPS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121
Green Green List (high evidence)
ALG12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ig 607143
Green Green List (high evidence)
ALG3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Id 601110
Green Green List (high evidence)
ALG9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Il 608776
  • Gillessen-Kaesbach-Nishimura syndrome 263210
Green Green List (high evidence)
ALPL
2 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • hypophosphatasia
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Green Green List (high evidence)
ALX3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Frontonasal dysplasia 1 136760
Green Green List (high evidence)
ALX4
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Frontonasal dysplasia 2 613451
Green Green List (high evidence)
AMER1
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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Osteopathia striata with cranial sclerosis 300373
Green Green List (high evidence)
ANKH
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Chondrocalcinosis 2 118600
  • Craniometaphyseal dysplasia 123000
Green Green List (high evidence)
ANKRD11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
  • UKGTN
Phenotypes
  • KBG syndrome 148050
Green Green List (high evidence)
ANO5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Gnatodiaphyseal dysplasia
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Disproportionate Short Stature
Green Green List (high evidence)
ANTXR2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Hyaline fibromatosis syndrome 228600
Green Green List (high evidence)
ARHGAP31
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
  • Expert list
Phenotypes
  • Adams-Oliver syndrome 1 100300
Green Green List (high evidence)
ARSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Green Green List (high evidence)
ARSE
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CDPXL
  • Chondrodysplasia punctata, X-linked recessive, 302950
  • X-linked recessive chondrodysplasia punctata
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Green Green List (high evidence)
ASXL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Bohring-Opitz syndrome 605039
Green Green List (high evidence)
ASXL2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Shashi-Pena syndrome 617190
Green Green List (high evidence)
ATP6V0A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA 219200
Green Green List (high evidence)
ATP7A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Menkes disease 309400
  • Occipital horn syndrome 304150
  • Spinal muscular atrophy, distal, 300489
Green Green List (high evidence)
B3GALT6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 2 615349
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Green Green List (high evidence)
B3GAT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Larsen alike phenotype (skd incl)
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
Green Green List (high evidence)
B4GALT7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Ehlers-Danlos syndrome with short stature and limb anomalies 130070
Green Green List (high evidence)
B9D1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 9 614209
Green Green List (high evidence)
BHLHA9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
Green Green List (high evidence)
BMP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Osteogenesis imperfecta, type XIII, 614856
Green Green List (high evidence)
BMPER
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Diaphanospondylodysostosis 608022
Green Green List (high evidence)
BMPR1B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Acromesomelic dysplasia, Demirhan type 609441
  • Brachydactyly, type A1, D 616849
  • Brachydactyly, type A2 112600
Green Green List (high evidence)
C21orf2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Axial Spondylometaphyseal Dysplasia 602271
Green Green List (high evidence)
C2CD3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert list
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome XIV 615948
Green Green List (high evidence)
CA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
Green Green List (high evidence)
CANT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 1 251450
Green Green List (high evidence)
CASR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hyperparathyroidism, neonatal 239200
  • Hypocalcemia, autosomal dominant 601198
  • Hypocalcemia, autosomal dominant, with Bartter syndrome 601198
  • Hypocalciuric hypercalcemia, type I 145980
Green Green List (high evidence)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 6 612284
Green Green List (high evidence)
CDC45
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)
  • Craniosynostosis (Wilkie) (from Ana Beleza)
Green Green List (high evidence)
CDH3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Green Green List (high evidence)
CDKN1C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • IMAGE syndrome 614732
Green Green List (high evidence)
CDT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Meier-Gorlin syndrome 4 613804
Green Green List (high evidence)
CEP120
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert list
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly 616300
  • Joubert syndrome 213300
Green Green List (high evidence)
CEP290
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Bardet-Biedl syndrome 14 615991
  • Joubert syndrome 5 610188
  • Leber congenital amaurosis 10
  • Meckel syndrome 4 611134
  • Senior-Loken syndrome 6 610189
Green Green List (high evidence)
CHST14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1 601776
Green Green List (high evidence)
CHST3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
Green Green List (high evidence)
CHSY1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
Green Green List (high evidence)
CLCN5
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dent disease 300009
  • Hypophosphatemic rickets 300554
  • Nephrolithiasis, type I 310468
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
Green Green List (high evidence)
CLCN7
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal dominant 2 166600
  • Osteopetrosis, autosomal recessive 4 611490
Green Green List (high evidence)
COL10A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Metaphyseal chondrodysplasia, Schmid type 156500
Green Green List (high evidence)
COL11A1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Fibrochondrogenesis 1 228520
  • Marshall syndrome 154780
  • Stickler syndrome, type II 604841
Green Green List (high evidence)
COL11A2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fibrochondrogenesis 2 614524
  • Otospondylomegaepiphyseal dysplasia 215150
  • Stickler syndrome, type III 184840
  • Weissenbacher-Zweymuller syndrome 277610
Green Green List (high evidence)
COL1A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Caffey disease 114000
  • Ehlers-Danlos syndrome, classic 130000
  • Ehlers-Danlos syndrome, type VIIA 130060
  • Osteogenesis imperfecta, type I 166200
  • Osteogenesis imperfecta, type II 166210
  • Osteogenesis imperfecta, type III 259420
  • Osteogenesis imperfecta, type IV 166220
Green Green List (high evidence)
COL1A2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Ehlers-Danlos syndrome, cardiac valvular form 225320
  • Ehlers-Danlos syndrome, type VIIB 130060
  • Osteogenesis imperfecta, type II 166210
  • Osteogenesis imperfecta, type III 259420
  • Osteogenesis imperfecta, type IV 166220
Green Green List (high evidence)
COL2A1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Achondrogenesis, type II or hypochondrogenesis 200610
  • Avascular necrosis of the femoral head 608805
  • Czech dysplasia 609162
  • Epiphyseal dysplasia, multiple, with myopia and deafness 132450
  • Kniest dysplasia 156550
  • Legg-Calve-Perthes disease 150600
  • Osteoarthritis with mild chondrodysplasia 604864
  • Otospondylomegaepiphyseal dysplasia 215150
  • Platyspondylic skeletal dysplasia, Torrance type 151210
  • SED congenita 183900
  • SMED Strudwick type 184250
  • Spondyloepiphyseal dysplasia, Stanescu type 616583
  • Spondyloperipheral dysplasia 271700
  • Stickler sydrome, type I, nonsyndromic ocular 609508
  • Stickler syndrome, type I 108300
Green Green List (high evidence)
COL9A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Epiphyseal dysplasia, multiple, 6 614135
  • Stickler syndrome, type IV 614134
Green Green List (high evidence)
COL9A2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Stickler syndrome, type V 614284
  • Epiphyseal dysplasia, multiple, 2 600204
  • {Intervertebral disc disease, susceptibility to}, 603932
  • Stickler syndrome, type V, 614284
Green Green List (high evidence)
COL9A3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • MED
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Dominant
  • Epiphyseal dysplasia, multiple, with myopathy
  • Stickler syndrome type VI
  • Mutiple Epiphyseal Dysplasia
Green Green List (high evidence)
COLEC11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3MC syndrome 2 265050
Green Green List (high evidence)
COMP
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Epiphyseal dysplasia, multiple, 1 132400
  • Pseudoachondroplasia 177170
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
CREBBP
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Rubinstein-Taybi syndrome 180849
Green Green List (high evidence)
CRTAP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Osteogenesis imperfecta, type VII 610682
Green Green List (high evidence)
CSPP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 21 615636
  • ORPHA:475 Joubert syndrome
  • ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
  • ORPHA:564 Meckel syndrome
Green Green List (high evidence)
CTSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Galactosialidosis 256540
Green Green List (high evidence)
CTSC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Haim-Munk syndrome 245010
Green Green List (high evidence)
CTSK
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Pycnodysostosis 265800
Green Green List (high evidence)
CUL7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-M syndrome 1 273750
Green Green List (high evidence)
CYP27B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Vitamin D-dependent rickets, type I 264700
Green Green List (high evidence)
DDR2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondylometaepiphyseal dysplasia, short limb-hand type 271665
Green Green List (high evidence)
DHCR24
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Desmosterolosis 602398
Green Green List (high evidence)
DHODH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Miller syndrome (postaxial acrofacial dysostosis) 263750
Green Green List (high evidence)
DIS3L2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Perlman syndrome 267000
Green Green List (high evidence)
DLL3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive 277300
Green Green List (high evidence)
DLX3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Amelogenesis imperfecta, type IV 104510
  • Trichodontoosseous syndrome 190320
Green Green List (high evidence)
DLX5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Green Green List (high evidence)
DMP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1)
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Acromesomelic dysplasia, Hunter-Thompson type, 201250
  • Brachydactyly, type C, 113100
  • Chondrodysplasia, Grebe type, 200700
  • Du Pan syndrome, 228900
  • Brachydactyly, type A2, 112600
  • Symphalangism, proximal, 1B, 615298
  • Multiple synostoses syndrome 2, 610017
  • {Osteoarthritis-5}, 612400
  • Brachydactyly, type A1, C, 615072
  • Hypophosphatemic rickets, AR, 241520
Green Green List (high evidence)
DNMT3A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tatton-Brown-Rahman syndrome 615879
Green Green List (high evidence)
DOCK6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Adams-Oliver syndrome 2 614219
Green Green List (high evidence)
DPM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ie 608799
Green Green List (high evidence)
DVL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert list
Phenotypes
  • Robinow syndrome, autosomal dominant 2 616331
Green Green List (high evidence)
DYM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dyggve-Melchior-Clausen disease 223800
  • Smith-McCort dysplasia 607326
Green Green List (high evidence)
DYNC2H1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff)
  • Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087
Green Green List (high evidence)
DYNC2LI1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
  • SRTD15 #617088
Green Green List (high evidence)
EBP
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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CDPXLD
  • Chondrodysplasia punctata, X-linked dominant, 302960
  • X-linked dominant chondrodysplasia punctata
  • MEND syndrome
Green Green List (high evidence)
EED
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cohen-Gibson syndrome 617561
Green Green List (high evidence)
EFNB1
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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Craniofrontonasal dysplasia 304110
Green Green List (high evidence)
EFTUD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type 610536
Green Green List (high evidence)
EIF2AK3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wolcott-Rallison syndrome 226980
Green Green List (high evidence)
ENPP1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Arterial calcification, generalized, of infancy, 1 208000
  • Cole disease 615522
  • Hypophosphatemic rickets, autosomal recessive, 2 613312
Green Green List (high evidence)
EOGT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
Phenotypes
  • Adams Oliver syndrome 4
Green Green List (high evidence)
ERF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis 4 600775
Green Green List (high evidence)
ESCO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Roberts syndrome 268300
  • SC phocomelia syndrome 269000
Green Green List (high evidence)
EVC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • ECV1
  • Ellis-van Creveld Syndrome
  • Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530
Green Green List (high evidence)
EVC2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ellis-van Creveld syndrome 225500
  • Weyers acrofacial dysostosis 193530
Green Green List (high evidence)
EXT1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Exostoses, multiple, type 1 133700
Green Green List (high evidence)
EXT2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Exostoses, multiple, type 2 133701
Green Green List (high evidence)
EXTL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
Green Green List (high evidence)
EZH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Weaver syndrome
Green Green List (high evidence)
FAM111A
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Gracile bone dysplasia 602361
  • Kenny-Caffey syndrome, type 2 127000
Green Green List (high evidence)
FAM20C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Raine syndrome 259775
Green Green List (high evidence)
FAM58A
3 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
Phenotypes
  • STAR syndrome 300707
Tags
  • new-gene-name
Green Green List (high evidence)
FBN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Acromicric dysplasia 102370
  • Geleophysic dysplasia 2 614185
  • Marfan syndrome 154700
  • Stiff skin syndrome 184900
  • Weill-Marchesani syndrome 2, dominant 608328
Green Green List (high evidence)
FBN2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Contractural arachnodactyly, congenital 121050
Green Green List (high evidence)
FERMT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukocyte adhesion deficiency, type III 612840
  • (Moderate osteopetrosis) Kilic SS et al. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. J Clin Immunol. 2009 Jan, 29(1):117-22.
Green Green List (high evidence)
FGF10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • LADD syndrome 149730
Green Green List (high evidence)
FGF16
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Metacarpal 4-5 fusion 309630
Green Green List (high evidence)
FGF23
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial 211900
  • Hypophosphatemic rickets, autosomal dominant 193100
  • Osteomalacia, tumor-induced
Green Green List (high evidence)
FGFR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Encephalocraniocutaneous lipomatosis, somatic mosaism 613001
  • Hartsfield syndrome 615465
  • Hypogonadotropic hypogonadism 2 with or without anosmia 147950
  • Jackson-Weiss syndrome 123150
  • Osteoglophonic dysplasia 166250
  • Pfeiffer syndrome 101600
  • Trigonocephaly 1 190440
Green Green List (high evidence)
FGFR2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
  • Apert syndrome 101200
  • Beare-Stevenson cutis gyrata syndrome 123790
  • Bent bone dysplasia syndrome 614592
  • Craniofacial-skeletal-dermatologic dysplasia 101600
  • Craniosynostosis, nonspecific Crouzon syndrome 123500
  • Gastric cancer, somatic 613659
  • Jackson-Weiss syndrome 123150
  • LADD syndrome 149730
  • Pfeiffer syndrome 101600
Green Green List (high evidence)
FGFR3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Achondroplasia 100800
  • CATSHL syndrome 610474
  • Crouzon syndrome with acanthosis nigricans 612247
  • Hypochondroplasia 146000
  • LADD syndrome 149730
  • Muenke syndrome 602849
  • SADDAN 616482
  • Thanatophoric dysplasia, type I 187600
  • Thanatophoric dysplasia, type II 187601
Green Green List (high evidence)
FIG4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Amyotrophic lateral sclerosis 11 612577
  • Yunis-Varon syndrome 216340
Green Green List (high evidence)
FKBP10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brucks syndrome
  • Osteogenesis imperfecta, type XI, 610968
  • Osteogenesis Imperfecta, Recessive
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Green Green List (high evidence)
FLNA
3 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
Phenotypes
  • Osteodysplasty Melnick Needles 309350 XLD
  • Otopalatodigital syndrome, type II 304120 XLD
  • Frontometaphyseal dysplasia 305620 XLR
  • Terminal osseous dysplasia 300244
Green Green List (high evidence)
FLNB
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Atelosteogenesis, type I 108720
  • Atelosteogenesis, type III 108721
  • Boomerang dysplasia 112310
  • Larsen syndrome 150250
  • Spondylocarpotarsal synostosis syndrome 272460
Green Green List (high evidence)
FUCA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Fucosidosis 230000
Green Green List (high evidence)
GALNS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis IVA 253000
Green Green List (high evidence)
GALNT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900
Green Green List (high evidence)
GDF5
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Acromesomelic dysplasia, Hunter-Thompson type 201250
  • Brachydactyly, type A1, C 615072
  • Brachydactyly, type A2 112600
  • Brachydactyly, type C 113100
  • Chondrodysplasia, Grebe type 200700
  • Du Pan syndrome 228900
  • Multiple synostoses syndrome 2 610017
  • Symphalangism, proximal, 1B 615298
  • {Osteoarthritis-5} 612400
Green Green List (high evidence)
GDF6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Klippel-Feil syndrome 1, autosomal dominant 118100
Green Green List (high evidence)
GHR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Laron dwarfism, 262500
  • Short stature, 604271
  • {Hypercholesterolemia, familial, modification of}, 143890
  • Increased responsiveness to growth hormone
  • Proportionate Short Stature/Small for Gestational Age
Green Green List (high evidence)
GJA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Craniometaphyseal dysplasia, autosomal recessive 218400
  • Erythrokeratodermia variabilis et progressiva 133200
  • Hypoplastic left heart syndrome 1 241550
  • Oculodentodigital dysplasia 164200
  • Oculodentodigital dysplasia, autosomal recessive 257850
  • Palmoplantar keratoderma with congenital alopecia 104100
  • Syndactyly, type III 186100
Green Green List (high evidence)
GLB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • GM1-gangliosidosis, type I 230500
  • GM1-gangliosidosis, type II 230600
  • GM1-gangliosidosis, type III 230650
  • Mucopolysaccharidosis type IVB (Morquio) 253010
Green Green List (high evidence)
GLI3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Greig cephalopolysyndactyly syndrome 175700
  • Pallister-Hall syndrome 146510
  • Polydactyly, postaxial, types A1 and B 174200
  • Polydactyly, preaxial, type IV 174700
  • {Hypothalamic hamartomas, somatic} 241800
Green Green List (high evidence)
GNAS
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • ACTH-independent macronodular adrenal hyperplasia 219080 IC
  • McCune-Albright syndrome, somatic, mosaic 174800
  • Osseous heteroplasia, progressive 166350
  • Pseudohypoparathyroidism Ia 103580
  • Pseudohypoparathyroidism Ib 603233
  • Pseudohypoparathyroidism Ic 612462
  • Pseudopseudohypoparathyroidism 612463
Green Green List (high evidence)
GNPAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • RCDP2
  • Rhizomelic Chondrodysplasia Punctata
  • Chondrodysplasia punctata, rhizomelic, type 2, 222765
  • Rhizomelic chondrodysplasia punctata type 2
Green Green List (high evidence)
GNPTAB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Mucolipidosis II alpha/beta 252500
  • Mucolipidosis III alpha/beta 252600
Green Green List (high evidence)
GNPTG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Mucolipidosis III gamma 252605
Green Green List (high evidence)
GNS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Mucopolysaccharidosis type IIID 252940
Green Green List (high evidence)
GORAB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Geroderma osteodysplasticum 231070
Green Green List (high evidence)
GPC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Omodysplasia 1 258315
Green Green List (high evidence)
GPX4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia, Sedaghatian type 250220
Green Green List (high evidence)
GSC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471
Green Green List (high evidence)
GUSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Mucopolysaccharidosis VII 253220
Green Green List (high evidence)
GZF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Larsen syndrome
Green Green List (high evidence)
HDAC4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430
Green Green List (high evidence)
HDAC8
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
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 5 300882
  • Wilson-Turner syndrome 309585
Green Green List (high evidence)
HES7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondylocostal dysostosis 4, autosomal recessive 613686
Green Green List (high evidence)
HGSNAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Green Green List (high evidence)
HOXA13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Guttmacher syndrome 176305
  • Hand-foot-genital syndrome 140000
Green Green List (high evidence)
HOXD13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Brachydactyly-syndactyly syndrome 610713
  • Brachydactyly, type D 113200
  • Brachydactyly, type E 113300
  • Syndactyly, type V 186300
  • Synpolydactyly 1 186000
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
HPGD
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cranioosteoarthropathy 259100
  • Digital clubbing, isolated congenital 119900
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100
Green Green List (high evidence)
HSPG2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Dyssegmental dysplasia, Silverman-Handmaker type 224410
  • Schwartz-Jampel syndrome, type 1 255800
Green Green List (high evidence)
ICK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine-cerebroosteodysplasia 612651
Green Green List (high evidence)
IDH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875
  • Maffucci syndrome 614569
  • Ollier disease/ Dyschondroplasia 166000
Tags
  • mosaicism
Green Green List (high evidence)
IDS
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Mucopolysaccharidosis II 309900
Green Green List (high evidence)
IDUA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Mucopolysaccharidosis Ih 607014
  • Mucopolysaccharidosis Ih/s 607015
  • Mucopolysaccharidosis Is 607016
Green Green List (high evidence)
IFITM5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Osteogenesis imperfecta, type V 610967
Green Green List (high evidence)
IFT122
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Cranioectodermal dysplasia 1 218330
Green Green List (high evidence)
IFT140
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
Green Green List (high evidence)
IFT172
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • SRTD10
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Green Green List (high evidence)
IFT43
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Green Green List (high evidence)
IFT52
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102
Green Green List (high evidence)
IFT80
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly 611263
Green Green List (high evidence)
IFT81
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short-Rib Polydactyly Syndrome
Green Green List (high evidence)
IHH
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Acrocapitofemoral dysplasia 607778
  • Brachydactyly, type A1 112500
Green Green List (high evidence)
IKBKG
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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
Phenotypes
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
  • Incontinentia pigmenti 308300
Green Green List (high evidence)
IL11RA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis and dental anomalies 614188
Green Green List (high evidence)
IL1RN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
Phenotypes
  • Interleukin 1 receptor antagonist deficiency 612852
Green Green List (high evidence)
IMPAD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type 614078
Green Green List (high evidence)
INPPL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Opsismodysplasia 258480
Green Green List (high evidence)
KIF22
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546
Green Green List (high evidence)
KIF7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Al-Gazali-Bakalinova syndrome 607131
  • Hydrolethalus syndrome 2 614120
  • Acrocallosal syndrome 200990
  • Joubert syndrome 12 200990
Green Green List (high evidence)
LBR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Greenberg skeletal dysplasia 215140
  • Pelger-Huet anomaly 169400
Green Green List (high evidence)
LEMD3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Buschke-Ollendorff syndrome 166700
  • Melorheostosis with osteopoikilosis 155950 IC
  • Osteopoikilosis 166700
Green Green List (high evidence)
LIFR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
Green Green List (high evidence)
LMBR1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Acheiropody 200500
  • Hypoplastic or aplastic tibia with polydactyly 188740
  • Laurin-Sandrow syndrome 135750
  • Polydactyly, preaxial type II 174500
  • Syndactyly, type IV 186200
  • Triphalangeal thumb, type I 174500
  • Triphalangeal thumb-polysyndactyly syndrome 174500
Green Green List (high evidence)
LMNA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Foundation Trust) Mandibuloacral dysplasia 248370
  • Cardiomyopathy, dilated, 1A 115200
  • Charcot-Marie-Tooth disease, type 2B1 605588
  • Emery-Dreifuss muscular dystrophy 2, 181350
  • Emery-Dreifuss muscular dystrophy 3, 616516
  • Heart-hand syndrome, Slovenian type 610140
  • Hutchinson-Gilford progeria 176670
  • Lipodystrophy, familial partial, 2 151660
  • Malouf syndrome 212112
  • Muscular dystrophy, congenital 613205
  • Muscular dystrophy, limb-girdle, type 1B 159001
  • Restrictive dermopathy, lethal 275210
Green Green List (high evidence)
LMX1B
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Nail-patella syndrome 161200
Green Green List (high evidence)
LONP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373
Green Green List (high evidence)
LPIN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Green Green List (high evidence)
LRP4
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Cenani-Lenz syndactyly syndrome 212780
  • Sclerosteosis 2 614305
Green Green List (high evidence)
LRP5
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
Phenotypes
  • Exudative vitreoretinopathy 4 601813
  • Hyperostosis, endosteal 144750
  • Osteopetrosis, autosomal dominant 1 607634
  • Osteoporosis-pseudoglioma syndrome 259770
  • Osteosclerosis 144750
  • van Buchem disease, type 2 607636
  • [Bone mineral density variability 1] 601884
  • {Osteoporosis} 166710
Green Green List (high evidence)
LTBP3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Geleophysic dysplasia 3 617809
Green Green List (high evidence)
MAFB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Multicentric carpotarsal osteolysis syndrome 166300
Green Green List (high evidence)
MAN2B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Mannosidosis, alpha-, types I and II 248500
Green Green List (high evidence)
MAP3K7
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Frontometaphyseal dysplasia 2, 617137
Green Green List (high evidence)
MATN3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • MED
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Dominant
  • Epiphyseal dysplasia, multiple, 5, 607078
  • {Osteoarthritis susceptibility 2}, 140600
  • Spondyloepimetaphyseal dysplasia, 608728
  • Disproportionate Short Stature
Green Green List (high evidence)
MEGF8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
Phenotypes
  • Carpenter syndrome 2 614976
Green Green List (high evidence)
MEOX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Klippel-Feil syndrome 2 214300
Green Green List (high evidence)
MESP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondylocostal dysostosis 2, autosomal recessive 608681
Green Green List (high evidence)
MGP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Keutel syndrome 245150
Green Green List (high evidence)
MKS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 13 615990
  • Meckel syndrome 1 249000
Green Green List (high evidence)
MMP13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Metaphyseal anadysplasia 1 602111
  • Spondyloepimetaphyseal dysplasia, Missouri type 602111
Green Green List (high evidence)
MMP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Multicentric osteolysis, nodulosis, and arthropathy 259600
Green Green List (high evidence)
MNX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Currarino syndrome 176450
Green Green List (high evidence)
MPDU1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type If 609180
Green Green List (high evidence)
MSX2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Craniosynostosis, type 2 604757
  • Parietal foramina 1 168500
  • Parietal foramina with cleidocranial dysplasia 168550
Green Green List (high evidence)
MYCN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Green Green List (high evidence)
NAGLU
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Green Green List (high evidence)
NANS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
Green Green List (high evidence)
NEK1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • SRPS type 2 (Majewski)
  • Short rib-polydactyly syndrome, type IIA, 263520
  • Short Rib Polydactyly Syndrome
Green Green List (high evidence)
NEU1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Sialidosis, type I 256550
  • Sialidosis, type II 256550
Green Green List (high evidence)
NF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Neurofibromatosis, familial spinal 162210
  • Neurofibromatosis, type 1 162200
  • Neurofibromatosis-Noonan syndrome 601321
Green Green List (high evidence)
NFIX
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Marshall-Smith syndrome 602535
  • Sotos syndrome 2 614753
Green Green List (high evidence)
NIN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Seckel syndrome 7 614851
Green Green List (high evidence)
NIPBL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Cornelia de Lange syndrome 1 122470
Green Green List (high evidence)
NKX3-2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia 613330
Green Green List (high evidence)
NLRP3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • CINCA (Infantile-onset multisystem inflammatory disease) 607115
Green Green List (high evidence)
NOG
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Brachydactyly, type B2 611377
  • Multiple synostoses syndrome 1 186500
  • Stapes ankylosis with broad thumb and toes 184460
  • Symphalangism, proximal, 1A 185800
  • Tarsal-carpal coalition syndrome 186570
Green Green List (high evidence)
NOTCH2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Alagille syndrome 2 610205
  • Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500
Green Green List (high evidence)
NPR2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Acromesomelic dysplasia, Maroteaux type 602875
  • Epiphyseal chondrodysplasia, Miura type 615923
  • Short stature with nonspecific skeletal abnormalities 616255
Green Green List (high evidence)
NSD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Sotos syndrome 1 117550
Green Green List (high evidence)
NSDHL
3 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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
  • CK syndrome 300831
Green Green List (high evidence)
OBSL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-M syndrome 2 612921
Green Green List (high evidence)
OFD1
3 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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 10 300804
  • Orofaciodigital syndrome I 311200 XLD
  • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Green Green List (high evidence)
ORC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Meier-Gorlin syndrome 1 224690
Green Green List (high evidence)
ORC4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Meier-Gorlin syndrome 2 613800
Green Green List (high evidence)
ORC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Meier-Gorlin syndrome 3 613803
Green Green List (high evidence)
OSTM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 5 259720
Green Green List (high evidence)
P3H1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Osteogenesis imperfecta, type VIII 610915
Green Green List (high evidence)
PAPSS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847
Green Green List (high evidence)
PCNT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
Green Green List (high evidence)
PCYT1A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Green Green List (high evidence)
PDE4D
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Acrodysostosis 2, with or without hormone resistance 614613
Green Green List (high evidence)
PEX5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) 214110
  • Rhizomelic chondrodysplasia punctata, type 5 616716
Green Green List (high evidence)
PEX7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Rhizomelic CDP type 1
  • Rhizomelic chondrodysplasia punctata, type 1, 215100
Green Green List (high evidence)
PGM3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 23 615816
Green Green List (high evidence)
PHEX
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
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant 307800
Green Green List (high evidence)
PHGDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Neu-Laxova syndrome 1 256520
  • Phosphoglycerate dehydrogenase deficiency 601815
Green Green List (high evidence)
PIGT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Green Green List (high evidence)
PIGV
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1 239300
Green Green List (high evidence)
PIK3R1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
Phenotypes
  • SHORT syndrome 269880
Green Green List (high evidence)
PITX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
  • Liebenberg syndrome 186550
Green Green List (high evidence)
PLOD2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Bruck syndrome 2 609220
Green Green List (high evidence)
PLS3
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 Review
Phenotypes
  • Bone mineral density QTL18, osteoporosis 300910
Green Green List (high evidence)
POC1A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Green Green List (high evidence)
POLR1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Acrofacial dysostosis, Cincinnati type 616462
Green Green List (high evidence)
POLR1C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Treacher Collins syndrome 3 248390
Green Green List (high evidence)
POLR1D
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Treacher Collins syndrome 2 613717
Green Green List (high evidence)
POP1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Anauxetic dysplasia 2, 617396
Green Green List (high evidence)
POR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Green Green List (high evidence)
PPIB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Osteogenesis imperfecta, type IX 259440
Green Green List (high evidence)
PRKAR1A
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Acrodysostosis 1, with or without hormone resistance 101800
  • Myxoma, intracardiac 255960
  • Pigmented nodular adrenocortical disease, primary, 1 610489
Green Green List (high evidence)
PRMT7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Green Green List (high evidence)
PSAT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neu-Laxova syndrome 2 616038
Green Green List (high evidence)
PSPH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Phosphoserine phosphatase deficiency 614023
Green Green List (high evidence)
PTDSS1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Lenz-Majewski hyperostotic dwarfism 151050
Green Green List (high evidence)
PTH1R
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Chondrodysplasia, Blomstrand type 215045
  • Eiken syndrome 600002
  • Failure of tooth eruption, primary 125350
  • Metaphyseal chondrodysplasia, Murk Jansen type 156400
Green Green List (high evidence)
PTHLH
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Brachydactyly, type E2 613382
Green Green List (high evidence)
PTPN11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • LEOPARD syndrome 1 151100
  • Metachondromatosis 156250
  • Noonan syndrome 1 163950
Green Green List (high evidence)
PUF60
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • Verheij syndrome, 615583
  • VRJS
  • Chromosome 8q24.3 deletion syndrome
  • PUF60 syndrome
Tags
  • microdeletion
Green Green List (high evidence)
PYCR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB 612940
  • Cutis laxa, autosomal recessive, type IIIB 614438
Green Green List (high evidence)
RAB23
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Carpenter syndrome 201000
Green Green List (high evidence)
RASGRP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects
Green Green List (high evidence)
RBM8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Thrombocytopenia-absent radius syndrome 274000
Green Green List (high evidence)
RBPJ
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Adams-Oliver syndrome 3, 614814
Green Green List (high evidence)
RECQL4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Baller-Gerold syndrome 218600
  • RAPILINO syndrome 266280
  • Rothmund-Thomson syndrome 268400
Green Green List (high evidence)
RFT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type In 612015
Green Green List (high evidence)
RMRP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Anauxetic dysplasia 607095
  • Cartilage-hair hypoplasia 250250
  • Metaphyseal dysplasia without hypotrichosis 250460
Tags
  • locus-type-rna-misc
Green Green List (high evidence)
RNU4ATAC
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I 210710
  • Roifman syndrome 616651
Tags
  • locus-type-rna-small-nuclear
Green Green List (high evidence)
ROR2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Brachydactyly, type B1 113000
  • Robinow syndrome, autosomal recessive 268310
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 7 611560
  • Meckel syndrome 5 611561
Green Green List (high evidence)
RUNX2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Cleidocranial dysplasia 119600
  • Cleidocranial dysplasia, forme fruste, dental anomalies only 119600
  • Cleidocranial dysplasia, forme fruste, with brachydactyly 119600
  • Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510
Green Green List (high evidence)
SALL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Green Green List (high evidence)
SALL4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Okihiro (Duane-radial ray) syndrome 607323
  • IVIC syndrome 147750
Green Green List (high evidence)
SBDS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Shwachman-Diamond syndrome 260400
Green Green List (high evidence)
SCARF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Van den Ende-Gupta syndrome 600920
Green Green List (high evidence)
SEC24D
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Cole-Carpenter syndrome
  • Osteogenesis Imperfecta, Cole Carpenter syndrome
  • SYNDROMIC OSTEOGENESIS IMPERFECTA
Green Green List (high evidence)
SERPINF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • OI/osteoporosis
  • Osteogenesis imperfecta, type VI, 613982
  • Osteogenesis Imperfecta, Recessive
  • osteogenesis imperfecta
Green Green List (high evidence)
SERPINH1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • OI3
  • {Preterm premature rupture of the membranes, susceptibility to}, 610504
  • Osteogenesis imperfecta, type X, 613848
  • Osteogenesis Imperfecta, Recessive
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Green Green List (high evidence)
SETD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Luscan-Lumish syndrome 616831
Green Green List (high evidence)
SF3B4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
Phenotypes
  • Acrofacial dysostosis 1, Nager type 154400
Green Green List (high evidence)
SFRP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Pyle disease 265900
  • PYL
  • Metaphyseal dysplasia
Green Green List (high evidence)
SGSH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
Green Green List (high evidence)
SH3BP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Cherubism 118400
Green Green List (high evidence)
SH3PXD2B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Frank-ter Haar syndrome 249420
Green Green List (high evidence)
SHOX
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Langer mesomelic dysplasia 249700
  • Leri-Weill dyschondrosteosis 127300
  • Short stature, idiopathic familial 300582
Green Green List (high evidence)
SKI
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
Phenotypes
  • Shprintzen-Goldberg syndrome 182212
Green Green List (high evidence)
SLC17A5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Sialic acid storage disorder, infantile 269920
Green Green List (high evidence)
SLC26A2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • ACG1B,DD,rMED
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Recessive
  • Epiphyseal dysplasia, multiple, 4
Green Green List (high evidence)
SLC29A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome 602782
Green Green List (high evidence)
SLC34A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Hypophosphatemic rickets with hypercalciuria 241530
Green Green List (high evidence)
SLC35D1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schneckenbecken dysplasia 269250
Green Green List (high evidence)
SLC39A13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350
Green Green List (high evidence)
SLCO2A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441
Green Green List (high evidence)
SMAD3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Loeys-Dietz syndrome 3 613795
Green Green List (high evidence)
SMAD4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Myhre syndrome 139210
Green Green List (high evidence)
SMARCAL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schimke immunoosseous dysplasia 242900
Green Green List (high evidence)
SMC1A
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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 2 300590
Green Green List (high evidence)
SMC3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 3 610759
Green Green List (high evidence)
SNRPB
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebrocostomandibular syndrome 117650
Green Green List (high evidence)
SNX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Osteopetrosis, autosomal recessive 8 615085
Green Green List (high evidence)
SOST
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Craniodiaphyseal dysplasia, autosomal dominant 122860
  • Sclerosteosis 1 269500
  • Van Buchem disease 239100
Green Green List (high evidence)
SOX9
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Acampomelic campomelic dysplasia 114290
  • Campomelic dysplasia 114290
  • Campomelic dysplasia with autosomal sex reversal 114290
Green Green List (high evidence)
SUMF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • UKGTN
Phenotypes
  • Multiple sulfatase deficiency 272200
Green Green List (high evidence)
TALDO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Transaldolase deficiency 606003
Green Green List (high evidence)
TBCE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypoparathyroidism-retardation-dysmorphism syndrome 241410
  • Kenny-Caffey syndrome, type 1 244460
Green Green List (high evidence)
TBX15
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Cousin syndrome 260660
Green Green List (high evidence)
TBX3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Ulnar-mammary syndrome 181450
Green Green List (high evidence)
TBX4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Ischiocoxopodopatellar syndrome 147891
Green Green List (high evidence)
TBX5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holt-Oram syndrome 142900
Green Green List (high evidence)
TBX6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spondylocostal dysostosis 5 122600
Green Green List (high evidence)
TBXAS1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Ghosal hematodiaphyseal syndrome 231095
Green Green List (high evidence)
TCF12
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis 3 615314
Green Green List (high evidence)
TCIRG1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Osteopetrosis, autosomal recessive 1 259700
Green Green List (high evidence)
TCOF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Treacher Collins syndrome 1 154500
Green Green List (high evidence)
TCTEX1D2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
Green Green List (high evidence)
TCTN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 8 613885
  • Joubert syndrome 24 616654
Green Green List (high evidence)
TCTN3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 18 614815
  • Orofaciodigital syndrome IV 258860
Green Green List (high evidence)
TERT
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989
Green Green List (high evidence)
TGFB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Camurati-Engelmann disease 131300
Green Green List (high evidence)
TGFB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Loeys-Dietz syndrome 4 614816
Green Green List (high evidence)
TGFBR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Loeys-Dietz syndrome 1 609192
Green Green List (high evidence)
TGFBR2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Loeys-Dietz syndrome 2 610168
Green Green List (high evidence)
THPO
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Thrombocythemia 1 187950 (rare presentation with congenital limb defects)
Green Green List (high evidence)
TMCO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980
Green Green List (high evidence)
TMEM165
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type IIk 614727
Green Green List (high evidence)
TMEM216
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 2 608091
  • Meckel syndrome 2 603194
Green Green List (high evidence)
TMEM231
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 20 614970
  • Meckel syndrome 11 615397
Green Green List (high evidence)
TMEM38B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Osteogenesis imperfecta, type XIV 615066
  • Osteogenesis imperfecta, type XIV, 615066
  • osteogenesis imperfecta
Green Green List (high evidence)
TMEM67
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 6 610688
  • Meckel syndrome 3 607361
  • {Bardet-Biedl syndrome 14, modifier of} 615991
Green Green List (high evidence)
TNFRSF11A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Osteolysis, familial expansile 174810
  • Osteopetrosis, autosomal recessive 7 612301
  • Paget disease of bone 2, early-onset 602080
Green Green List (high evidence)
TNFRSF11B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Paget disease of bone 5, juvenile-onset 239000
Green Green List (high evidence)
TNFSF11
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Osteopetrosis, autosomal recessive 2 259710
Green Green List (high evidence)
TP63
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ULT syndrome 103285
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292
  • Hay-Wells syndrome 106260
  • Limb-mammary syndrome 603543
  • Orofacial cleft 8 129400
  • Rapp-Hodgkin syndrome 129400
  • Split-hand/foot malformation 4 605289
Green Green List (high evidence)
TRAPPC2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spondyloepiphyseal dysplasia tarda 313400
Green Green List (high evidence)
TREM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Nasu-Hakola disease 221770
Green Green List (high evidence)
TRIP11
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achondrogenesis, type IA 200600
Green Green List (high evidence)
TRPS1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Trichorhinophalangeal syndrome, type I 190350
  • Trichorhinophalangeal syndrome, type III 190351
Green Green List (high evidence)
TRPV4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Brachyolmia type 3 113500
  • Digital arthropathy-brachydactyly, familial 606835
  • Hereditary motor and sensory neuropathy, type IIc 606071
  • Metatropic dysplasia 156530
  • Parastremmatic dwarfism 168400
  • Scapuloperoneal spinal muscular atrophy 181405
  • SED, Maroteaux type 184095
  • Spinal muscular atrophy, distal, congenital nonprogressive 600175
  • Spondylometaphyseal dysplasia, Kozlowski type 184252
Green Green List (high evidence)
TTC21B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • SRTD4
  • Asphyxiating Thoracic Dystrophy
  • Nephronophthisis 12, 613820
Green Green List (high evidence)
TWIST1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis, type 1 123100
  • Robinow-Sorauf syndrome 180750
  • Saethre-Chotzen syndrome 101400
  • Saethre-Chotzen syndrome with eyelid anomalies 101400
Green Green List (high evidence)
TWIST2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ablepharon-macrostomia syndrome 200110
  • Barber-Say syndrome 209885
Green Green List (high evidence)
TYROBP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Nasu-Hakola disease 221770
Green Green List (high evidence)
WDR19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • SRTD5
  • Asphyxiating thoracic dystrophy 5, 614376
Green Green List (high evidence)
WDR34
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Green Green List (high evidence)
WDR35
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cranioectodermal dysplasia 2 613610
  • Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Green Green List (high evidence)
WDR60
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Green Green List (high evidence)
WISP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthropathy, progressive pseudorheumatoid, of childhood 208230
  • Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230
Green Green List (high evidence)
WNT1
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • OI/osteoporosis
  • Osteogenesis imperfecta, type XV, 615220
  • {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221
  • osteogenesis imperfecta
Green Green List (high evidence)
WNT10B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Split-hand/foot malformation 6 225300
Green Green List (high evidence)
WNT5A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Robinow syndrome, autosomal dominant 1 180700
Green Green List (high evidence)
WNT7A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fuhrmann syndrome 228930
  • Ulna and fibula, absence of, with severe limb deficiency 276820
Green Green List (high evidence)
XRCC4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction 616541
Green Green List (high evidence)
XYLT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2 615777
Green Green List (high evidence)
XYLT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spondyloocular syndrome 605822
Green Green List (high evidence)
YY1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gabriele-de Vries syndrome 617557
Green Green List (high evidence)
ZIC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Craniosynostosis 6 616602
Green Green List (high evidence)
ZMPSTE24
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy 608612
  • Restrictive dermopathy, lethal 275210
Amber Amber List (moderate evidence)
DCC
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
Amber Amber List (moderate evidence)
FBLN1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Amber
Phenotypes
  • Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
Amber Amber List (moderate evidence)
HNRNPK
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
  • OMIM:616580
  • Orphanet:453499
Amber Amber List (moderate evidence)
MIR17HG
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Feingold syndrome 2, 614326
  • Microcephaly-oculo-digito-esophageal-duodenal syndrome
  • Feingold syndrome 2, 614326
  • FS2
  • Brachydactyly with short stature and microcephaly
Tags
  • watchlist
  • deletions
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
ACVR2B
1 review
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Heterotaxy, visceral, 4, autosomal 613751
Red Red List (low evidence)
ADGRV1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
ADI1
0 reviews
Unknown
Sources
Phenotypes
  • No OMIM or G2P phenotype
Red Red List (low evidence)
AFF3
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM or G2P phenotype
Red Red List (low evidence)
AHI1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
AIPL1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
AKT1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Cowden syndrome 6 615109
  • Proteus syndrome, somatic 176920
Red Red List (low evidence)
ALX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Frontonasal dysplasia 3 613456
Red Red List (low evidence)
ARID1A
0 reviews
Not set
Sources
Phenotypes
  • Coffin-Siris
Red Red List (low evidence)
ARID1B
0 reviews
Not set
Sources
Phenotypes
  • Coffin-Siris
Red Red List (low evidence)
ARL13B
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
ARL6
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
ATXN10
1 review
Not set
Sources
  • Emory Genetics Laboratory
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
B9D2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 10 614175
Red Red List (low evidence)
BANF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nestor-Guillermo progeria syndrome 614008
Red Red List (low evidence)
BBS1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS10
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS12
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS4
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS5
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS7
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BBS9
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
BMP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Brachydactyly, type A2 112600
  • {HFE hemochromatosis, modifier of} 235200
Red Red List (low evidence)
C2orf71
1 review
Not set
Sources
  • Emory Genetics Laboratory
Tags
  • new-gene-name
Red Red List (low evidence)
C5orf42
1 review
Not set
Sources
  • Emory Genetics Laboratory
Tags
  • new-gene-name
Red Red List (low evidence)
CCDC28B
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CCDC39
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CCDC40
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CCDC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • 3-M syndrome 3 614205
Red Red List (low evidence)
CDC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Meier-Gorlin syndrome 5 613805
Red Red List (low evidence)
CDH23
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CEP164
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CEP41
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CFTR
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CLRN1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
COG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type IIg 611209
Red Red List (low evidence)
COL12A1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693)
  • Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353)
  • Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339)
Red Red List (low evidence)
COL5A1
0 reviews
Not set
Sources
  • Expert
Red Red List (low evidence)
CRB1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CREB3L1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Osteogenesis imperfecta, type XVI 616229
Red Red List (low evidence)
CRELD1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CRX
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
CYP26B1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Red Red List (low evidence)
DACT1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Other
Phenotypes
  • ?Townes-Brocks syndrome 2,617466
  • TBS2
Red Red List (low evidence)
DLX6
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Red Red List (low evidence)
DNAAF1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAAF2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAAF3
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAH11
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAH5
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAI1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAI2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DNAL1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
DOLPP1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)
Red Red List (low evidence)
DPM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Iu 615042
Red Red List (low evidence)
DPM3
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type Io 612937
Red Red List (low evidence)
DSPP
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dentinogenesis imperfecta, Shields type II, 125490
  • Deafness, autosomal dominant 36, with dentinogenesis, 605594
  • Dentinogenesis imperfecta, Shields type III, 125500
  • Dentin dysplasia, type II, 125420 -3
Red Red List (low evidence)
EP300
0 reviews
Not set
Sources
Phenotypes
  • Rubinstein Taybi syndrome
Red Red List (low evidence)
ESR1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
ETF1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Red Red List (low evidence)
FBXW4
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Split-hand/foot malformation 3 syndrome 246560
Tags
  • currently-ngs-unreportable
Red Red List (low evidence)
FGF8
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.
Red Red List (low evidence)
FGF9
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ?Multiple synostoses syndrome type 3 612961
Tags
  • watchlist
Red Red List (low evidence)
FMN1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Animal models with skeletal dysplastic phenotypes
Red Red List (low evidence)
FOXC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Red Red List (low evidence)
FOXH1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
FZD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Autosomal dominant omodysplasia 164745
Red Red List (low evidence)
GDF1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
GLIS2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
GREM1
3 reviews
1 green 1 red
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • UKGTN
  • Expert list
Red Red List (low evidence)
GUCY2D
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
HDAC5
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • osteoporosis
Red Red List (low evidence)
HOXA11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
  • UKGTN
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432
Red Red List (low evidence)
HYLS1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
IDH2
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • D-2-hydroxyglutaric aciduria 2 613657
  • Maffucci syndrome 614569
  • Ollier disease/ Dyschondroplasia 166000
Red Red List (low evidence)
IFT88
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • UKGTN
Red Red List (low evidence)
IMPDH1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
INVS
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
IQCB1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
KAT6A
0 reviews
Not set
Sources
Phenotypes
  • syndromatic cranyosynostosis
Red Red List (low evidence)
KAT6B
0 reviews
Not set
Sources
Phenotypes
  • GTPTS,Ohdo
Red Red List (low evidence)
KCNJ13
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
LCA5
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
LEFTY2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
LFNG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Spondylocostal dysostosis 3, autosomal recessive 609813
Red Red List (low evidence)
LOXL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Stickler syndrome
Red Red List (low evidence)
LRAT
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
LRP6
0 reviews
Not set
Sources
  • Expert
Red Red List (low evidence)
MAN2C1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • alpha-Mannosidosis
Red Red List (low evidence)
MCM5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Meier-Gorlin syndrome 8 617564
Red Red List (low evidence)
MKKS
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
MMP14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Winchester syndrome 277950
Red Red List (low evidence)
MMP9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Metaphyseal anadysplasia 2 613073
Red Red List (low evidence)
MTAP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250
Red Red List (low evidence)
MYO7A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NBAS
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Red Red List (low evidence)
NEK8
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NKX2-5
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NME8
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NODAL
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NPHP1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NPHP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 7 267010
Red Red List (low evidence)
NPHP4
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
NPPC
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Overgrowth syndrome with 2q37 translocations
Red Red List (low evidence)
P4HB
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Cole-Carpenter syndrome 1 112240
Red Red List (low evidence)
PAM16
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320
Red Red List (low evidence)
PAX3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Craniofacial-Deafness-Hand Syndrome
Red Red List (low evidence)
PCDH15
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
PHF6
0 reviews
Not set
Sources
Phenotypes
  • Coffin-Siris syndrome
Red Red List (low evidence)
PIN1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • No phenotype associated with this gene
Red Red List (low evidence)
PIR
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Osteoporosis
Red Red List (low evidence)
PKD2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
PKHD1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
PLEKHM1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Osteopetrosis, autosomal recessive 6 611497
Red Red List (low evidence)
PLK4
0 reviews
Not set
Sources
Phenotypes
  • Microcephalic primordial dwarfism
Red Red List (low evidence)
PLOD1
0 reviews
Not set
Sources
  • Expert
Red Red List (low evidence)
PTPRQ
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
Red Red List (low evidence)
RAB33B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Smith-McCort dysplasia 2 615222
Red Red List (low evidence)
RAB3GAP2
0 reviews
Not set
Sources
Phenotypes
  • Martsolf syndrome
Red Red List (low evidence)
RAD21
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cornelia de Lange syndrome 4 614701
Red Red List (low evidence)
RD3
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RDH12
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RPE65
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RPGR
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RPGRIP1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RSPH4A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
RSPH9
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SCNN1A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SCNN1B
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SCNN1G
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SDCCAG8
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SEM1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • SHFM1
Red Red List (low evidence)
SHH
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Preaxial polydactyly type 1 (PPD1)
Red Red List (low evidence)
SLCO5A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Mesomelia-synostoses syndrome 600383
Red Red List (low evidence)
SMARCA2
0 reviews
Not set
Sources
Phenotypes
  • Coffin Siris syndrome
Red Red List (low evidence)
SMARCA4
0 reviews
Not set
Sources
Phenotypes
  • Coffin Siris syndrome
Red Red List (low evidence)
SMARCB1
0 reviews
Not set
Sources
Phenotypes
  • Coffin Siris syndrome
Red Red List (low evidence)
SMARCE1
0 reviews
Not set
Sources
Phenotypes
  • Coffin-Siris syndrome
Red Red List (low evidence)
SOX11
0 reviews
Not set
Sources
Phenotypes
  • Coffin-Siris syndrome
Red Red List (low evidence)
SP7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Osteogenesis imperfecta, type XII 613849
Red Red List (low evidence)
SPARC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type XVII 616507
Red Red List (low evidence)
SPATA7
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
SPECC1L
2 reviews
1 green
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Facial clefting, oblique, 1 600251
  • Opitz GBBB syndrome, type II 145410
  • Teebi hyperterorism like syndrome 145420
Red Red List (low evidence)
SULF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • UKGTN
  • Expert list
Phenotypes
  • Mesomelia-synostoses syndrome 600383
Red Red List (low evidence)
TAPT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Red Red List (low evidence)
TCTN1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TDP2
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dentinogenesis imperfecta, Shields type II, 125490
Red Red List (low evidence)
TMEM138
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TMEM237
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TNXB
0 reviews
Not set
Sources
  • Expert
Red Red List (low evidence)
TOPORS
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TRIM32
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TRMT10A
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, short stature and impaired glucose metabolism, 616033
Red Red List (low evidence)
TSC1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TSC2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TTC8
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
TULP1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
UMOD
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
USH1C
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
USH1G
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
USH2A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
USP9X
1 review
Not set
Sources
Phenotypes
  • New syndrom with skd
Red Red List (low evidence)
VAC14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies)
Red Red List (low evidence)
VDR
0 reviews
Not set
Sources
  • Expert
Red Red List (low evidence)
VHL
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
WDPCP
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
WHRN
1 review
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
WNT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Tetra-amelia syndrome 273395
Red Red List (low evidence)
XPNPEP3
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
ZBTB16
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Skeletal defects, genital hypoplasia, and mental retardation 612447
Red Red List (low evidence)
ZIC3
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Red Red List (low evidence)
ZNF423
0 reviews
Not set
Sources
  • Emory Genetics Laboratory

1 STR

1 reviewed, 0 green

List STR Reviews Mode of inheritance Details
1 STRs
Red Red List (low evidence)
ATXN10_ATTCT
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia , 603516
Tags
  • STR

Major version comments

Downloads

Download lists

Download Version