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.

9 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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachel Jones (GSTT)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

529 Entities

411 reviewed, 347 green

List Entity Reviews Mode of inheritance Details
529 Entitiess
Green Green List (high evidence)
2q37.3 terminal region (includes HDAC4) Loss
ISCA-37394-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination
  • 600430
Tags
Green Green List (high evidence)
16p13.3 region (includes CREBBP) Loss
ISCA-37406-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes
  • 610543
Tags
Green Green List (high evidence)
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
ISCA-37418-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Potocki-Lupski syndrome
  • hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders
  • Smith-Magenis syndrome
  • Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance
  • 182290
  • moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems
  • hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies
  • Dental abnormalities
Tags
Green Green List (high evidence)
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • posteriorly rotated, low-set, abnormal ears
  • brachycephaly
  • epicanthus
  • heart defects
  • pointed chin
  • deep-set eyes
  • microcephaly
  • hypotonia
  • seizures
  • poor/absent speech
  • central nervous system anomalies
  • large anterior fontanels
  • microbrachycephaly
  • mental retardation
  • growth impairment
  • large, late-closing anterior fontanel
  • flat nose
  • nasal bridge
  • developmental delay
  • hearing impairment
  • distinct dysmorphic features
  • 1p36 deletion syndrome
  • 607872
Tags
Green Green List (high evidence)
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
ISCA-37441-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Potocki-Shaffer syndrome
  • multiple exostoses
  • biparietal foramina
  • intellectual disability
  • strabismus
  • minor craniofacial anomalies
  • myopia
  • ophthalmologic anomalies
  • 601224
  • mental retardation
  • enlarged anterior fontanel
  • genital abnormalities in males
  • parietal foramina
  • developmental delay
Tags
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
Tags
Green Green List (high evidence)
ACAN
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • 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
Tags
Green Green List (high evidence)
ACP5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation 607944
Tags
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
Tags
Green Green List (high evidence)
ADAMTSL2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Geleophysic dysplasia 1 231050
Tags
Green Green List (high evidence)
AGA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
Tags
Green Green List (high evidence)
AGPS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121
Tags
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
Tags
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
Tags
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
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • hypophosphatasia
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
Tags
Green Green List (high evidence)
ALX3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Frontonasal dysplasia 1 136760
Tags
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
Tags
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
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteopathia striata with cranial sclerosis 300373
Tags
Green Green List (high evidence)
ANKH
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chondrocalcinosis 2 118600
  • Craniometaphyseal dysplasia 123000
Tags
Green Green List (high evidence)
ANKRD11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • KBG syndrome 148050
Tags
Green Green List (high evidence)
ANO5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Gnatodiaphyseal dysplasia
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Disproportionate Short Stature
Tags
Green Green List (high evidence)
ANTXR2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyaline fibromatosis syndrome 228600
Tags
Green Green List (high evidence)
ARHGAP31
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Adams-Oliver syndrome 1 100300
Tags
Green Green List (high evidence)
ARSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Tags
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
Tags
Green Green List (high evidence)
ASXL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bohring-Opitz syndrome 605039
Tags
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
Tags
Green Green List (high evidence)
ATP6V0A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA 219200
Tags
Green Green List (high evidence)
ATP7A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Menkes disease 309400
  • Occipital horn syndrome 304150
  • Spinal muscular atrophy, distal, 300489
Tags
Green Green List (high evidence)
B3GALT6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 2 615349
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Tags
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
Tags
Green Green List (high evidence)
B4GALT7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome with short stature and limb anomalies 130070
Tags
Green Green List (high evidence)
B9D1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel syndrome 9 614209
Tags
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
Tags
Green Green List (high evidence)
BMP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type XIII, 614856
Tags
Green Green List (high evidence)
BMP2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brachydactyly, type A2 112600
  • {HFE hemochromatosis, modifier of} 235200
Tags
Green Green List (high evidence)
BMPER
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Diaphanospondylodysostosis 608022
Tags
Green Green List (high evidence)
BMPR1B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Acromesomelic dysplasia, Demirhan type 609441
  • Brachydactyly, type A1, D 616849
  • Brachydactyly, type A2 112600
Tags
Green Green List (high evidence)
C21orf2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Axial Spondylometaphyseal Dysplasia 602271
Tags
  • new-gene-name
Green Green List (high evidence)
C2CD3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Orofaciodigital syndrome XIV 615948
Tags
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
Tags
Green Green List (high evidence)
CANT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Desbuquois dysplasia 1 251450
Tags
Green Green List (high evidence)
CASR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Hyperparathyroidism, neonatal 239200
  • Hypocalcemia, autosomal dominant 601198
  • Hypocalcemia, autosomal dominant, with Bartter syndrome 601198
  • Hypocalciuric hypercalcemia, type I 145980
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel syndrome 6 612284
Tags
Green Green List (high evidence)
CCDC8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-M syndrome 3, 614205
Tags
Green Green List (high evidence)
CDC45
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)
  • Craniosynostosis (Wilkie) (from Ana Beleza)
Tags
Green Green List (high evidence)
CDH3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Tags
Green Green List (high evidence)
CDKN1C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • IMAGE syndrome 614732
Tags
Green Green List (high evidence)
CDT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meier-Gorlin syndrome 4 613804
Tags
Green Green List (high evidence)
CEP120
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly 616300
  • Joubert syndrome 213300
Tags
Green Green List (high evidence)
CEP290
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 14 615991
  • Joubert syndrome 5 610188
  • Leber congenital amaurosis 10
  • Meckel syndrome 4 611134
  • Senior-Loken syndrome 6 610189
Tags
Green Green List (high evidence)
CHST14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1 601776
Tags
Green Green List (high evidence)
CHST3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
Tags
Green Green List (high evidence)
CHSY1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
Tags
Green Green List (high evidence)
CLCN5
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dent disease 300009
  • Hypophosphatemic rickets 300554
  • Nephrolithiasis, type I 310468
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
Tags
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
Tags
Green Green List (high evidence)
COL10A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Metaphyseal chondrodysplasia, Schmid type 156500
Tags
Green Green List (high evidence)
COL11A1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fibrochondrogenesis 1 228520
  • Marshall syndrome 154780
  • Stickler syndrome, type II 604841
Tags
Green Green List (high evidence)
COL11A2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fibrochondrogenesis 2 614524
  • Otospondylomegaepiphyseal dysplasia 215150
  • Stickler syndrome, type III 184840
  • Weissenbacher-Zweymuller syndrome 277610
Tags
Green Green List (high evidence)
COL1A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
COL1A2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
COL2A1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
COL9A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 6 614135
  • Stickler syndrome, type IV 614134
Tags
Green Green List (high evidence)
COL9A2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type V 614284
  • Epiphyseal dysplasia, multiple, 2 600204
  • {Intervertebral disc disease, susceptibility to}, 603932
  • Stickler syndrome, type V, 614284
Tags
Green Green List (high evidence)
COL9A3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review
  • Expert Review Green
  • 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
Tags
Green Green List (high evidence)
COLEC11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3MC syndrome 2 265050
Tags
Green Green List (high evidence)
COMP
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • 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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Rubinstein-Taybi syndrome 180849
Tags
Green Green List (high evidence)
CRTAP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteogenesis imperfecta, type VII 610682
Tags
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
Tags
Green Green List (high evidence)
CTSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Galactosialidosis 256540
Tags
Green Green List (high evidence)
CTSC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Haim-Munk syndrome 245010
Tags
Green Green List (high evidence)
CTSK
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pycnodysostosis 265800
Tags
Green Green List (high evidence)
CUL7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-M syndrome 1 273750
Tags
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
Tags
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
Tags
Green Green List (high evidence)
DHCR24
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Desmosterolosis 602398
Tags
Green Green List (high evidence)
DHODH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Miller syndrome (postaxial acrofacial dysostosis) 263750
Tags
Green Green List (high evidence)
DIS3L2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Perlman syndrome 267000
Tags
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
Tags
Green Green List (high evidence)
DLL4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Adams-Oliver syndrome 6, 616589
Tags
Green Green List (high evidence)
DLX3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type IV 104510
  • Trichodontoosseous syndrome 190320
Tags
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
Tags
Green Green List (high evidence)
DMP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
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
Tags
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
Tags
Green Green List (high evidence)
DOCK6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Adams-Oliver syndrome 2 614219
Tags
Green Green List (high evidence)
DPM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type Ie 608799
Tags
Green Green List (high evidence)
DVL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Robinow syndrome, autosomal dominant 2 616331
Tags
Green Green List (high evidence)
DVL3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Robinow syndrome, autosomal dominant 3, 616894
Tags
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
Tags
Green Green List (high evidence)
DYNC2H1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • 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
Tags
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
Tags
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
Tags
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
Tags
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
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniofrontonasal dysplasia 304110
Tags
Green Green List (high evidence)
EFTUD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type 610536
Tags
Green Green List (high evidence)
EIF2AK3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Wolcott-Rallison syndrome 226980
Tags
Green Green List (high evidence)
ENPP1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Arterial calcification, generalized, of infancy, 1 208000
  • Cole disease 615522
  • Hypophosphatemic rickets, autosomal recessive, 2 613312
Tags
Green Green List (high evidence)
EOGT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Adams Oliver syndrome 4
Tags
Green Green List (high evidence)
ERF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis 4 600775
Tags
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
Tags
Green Green List (high evidence)
EVC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ECV1
  • Ellis-van Creveld Syndrome
  • Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530
Tags
Green Green List (high evidence)
EVC2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ellis-van Creveld syndrome 225500
  • Weyers acrofacial dysostosis 193530
Tags
Green Green List (high evidence)
EXT1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Exostoses, multiple, type 1 133700
Tags
Green Green List (high evidence)
EXT2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Exostoses, multiple, type 2 133701
Tags
Green Green List (high evidence)
EXTL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
Tags
Green Green List (high evidence)
EZH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Weaver syndrome
Tags
Green Green List (high evidence)
FAM111A
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gracile bone dysplasia 602361
  • Kenny-Caffey syndrome, type 2 127000
Tags
Green Green List (high evidence)
FAM20C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Raine syndrome 259775
Tags
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
Tags
Green Green List (high evidence)
FBN2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Contractural arachnodactyly, congenital 121050
Tags
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.
Tags
Green Green List (high evidence)
FGF10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • LADD syndrome 149730
Tags
Green Green List (high evidence)
FGF16
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Metacarpal 4-5 fusion 309630
Tags
Green Green List (high evidence)
FGF23
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial 211900
  • Hypophosphatemic rickets, autosomal dominant 193100
  • Osteomalacia, tumor-induced
Tags
Green Green List (high evidence)
FGFR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
FGFR2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
FGFR3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
FIG4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amyotrophic lateral sclerosis 11 612577
  • Yunis-Varon syndrome 216340
Tags
Green Green List (high evidence)
FKBP10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • 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
Tags
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
Tags
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
Tags
Green Green List (high evidence)
FUCA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fucosidosis 230000
Tags
Green Green List (high evidence)
GALNS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis IVA 253000
Tags
Green Green List (high evidence)
GALNT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900
Tags
Green Green List (high evidence)
GDF5
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
GDF6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome 1, autosomal dominant 118100
Tags
Green Green List (high evidence)
GHR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Laron dwarfism, 262500
  • Short stature, 604271
  • {Hypercholesterolemia, familial, modification of}, 143890
  • Increased responsiveness to growth hormone
  • Proportionate Short Stature/Small for Gestational Age
Tags
Green Green List (high evidence)
GJA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
GLB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • GM1-gangliosidosis, type I 230500
  • GM1-gangliosidosis, type II 230600
  • GM1-gangliosidosis, type III 230650
  • Mucopolysaccharidosis type IVB (Morquio) 253010
Tags
Green Green List (high evidence)
GLI3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • 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
Tags
Green Green List (high evidence)
GNAS
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
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
Tags
Green Green List (high evidence)
GNPAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • RCDP2
  • Rhizomelic Chondrodysplasia Punctata
  • Chondrodysplasia punctata, rhizomelic, type 2, 222765
  • Rhizomelic chondrodysplasia punctata type 2
Tags
Green Green List (high evidence)
GNPTAB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucolipidosis II alpha/beta 252500
  • Mucolipidosis III alpha/beta 252600
Tags
Green Green List (high evidence)
GNPTG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucolipidosis III gamma 252605
Tags
Green Green List (high evidence)
GNS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis type IIID 252940
Tags
Green Green List (high evidence)
GORAB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Geroderma osteodysplasticum 231070
Tags
Green Green List (high evidence)
GPC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Omodysplasia 1 258315
Tags
Green Green List (high evidence)
GPX4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondylometaphyseal dysplasia, Sedaghatian type 250220
Tags
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
Tags
Green Green List (high evidence)
GUSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis VII 253220
Tags
Green Green List (high evidence)
GZF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Larsen syndrome
Tags
Green Green List (high evidence)
HDAC4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cornelia de Lange syndrome 5 300882
  • Wilson-Turner syndrome 309585
Tags
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
Tags
Green Green List (high evidence)
HGSNAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Tags
Green Green List (high evidence)
HOXA13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Guttmacher syndrome 176305
  • Hand-foot-genital syndrome 140000
Tags
Green Green List (high evidence)
HOXD13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
HSPG2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dyssegmental dysplasia, Silverman-Handmaker type 224410
  • Schwartz-Jampel syndrome, type 1 255800
Tags
Green Green List (high evidence)
ICK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Endocrine-cerebroosteodysplasia 612651
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis II 309900
Tags
Green Green List (high evidence)
IDUA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis Ih 607014
  • Mucopolysaccharidosis Ih/s 607015
  • Mucopolysaccharidosis Is 607016
Tags
Green Green List (high evidence)
IFITM5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type V 610967
Tags
Green Green List (high evidence)
IFT122
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cranioectodermal dysplasia 1 218330
Tags
Green Green List (high evidence)
IFT140
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
Tags
Green Green List (high evidence)
IFT172
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • SRTD10
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Tags
Green Green List (high evidence)
IFT43
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
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
Tags
Green Green List (high evidence)
IFT80
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly 611263
Tags
Green Green List (high evidence)
IFT81
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short-Rib Polydactyly Syndrome
Tags
Green Green List (high evidence)
IHH
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Acrocapitofemoral dysplasia 607778
  • Brachydactyly, type A1 112500
Tags
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
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
  • Incontinentia pigmenti 308300
Tags
Green Green List (high evidence)
IL11RA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis and dental anomalies 614188
Tags
Green Green List (high evidence)
IL1RN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Interleukin 1 receptor antagonist deficiency 612852
Tags
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
Tags
Green Green List (high evidence)
INPPL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Opsismodysplasia 258480
Tags
Green Green List (high evidence)
KIF22
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546
Tags
Green Green List (high evidence)
KIF7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Al-Gazali-Bakalinova syndrome 607131
  • Hydrolethalus syndrome 2 614120
  • Acrocallosal syndrome 200990
  • Joubert syndrome 12 200990
Tags
Green Green List (high evidence)
LBR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Greenberg skeletal dysplasia 215140
  • Pelger-Huet anomaly 169400
Tags
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
Tags
Green Green List (high evidence)
LIFR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
Tags
Green Green List (high evidence)
LMBR1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
LMNA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
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
Tags
Green Green List (high evidence)
LMX1B
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nail-patella syndrome 161200
Tags
Green Green List (high evidence)
LONP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373
Tags
Green Green List (high evidence)
LPIN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628
Tags
Green Green List (high evidence)
LRP4
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cenani-Lenz syndactyly syndrome 212780
  • Sclerosteosis 2 614305
Tags
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
Tags
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
Tags
Green Green List (high evidence)
MAFB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Multicentric carpotarsal osteolysis syndrome 166300
Tags
Green Green List (high evidence)
MAN2B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mannosidosis, alpha-, types I and II 248500
Tags
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
Tags
Green Green List (high evidence)
MATN3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • MED
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Dominant
  • Epiphyseal dysplasia, multiple, 5, 607078
  • {Osteoarthritis susceptibility 2}, 140600
  • Spondyloepimetaphyseal dysplasia, 608728
  • Disproportionate Short Stature
Tags
Green Green List (high evidence)
MEGF8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Carpenter syndrome 2 614976
Tags
Green Green List (high evidence)
MEOX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome 2 214300
Tags
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
Tags
Green Green List (high evidence)
MGP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Keutel syndrome 245150
Tags
Green Green List (high evidence)
MKS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bardet-Biedl syndrome 13 615990
  • Meckel syndrome 1 249000
Tags
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
Tags
Green Green List (high evidence)
MMP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Multicentric osteolysis, nodulosis, and arthropathy 259600
Tags
Green Green List (high evidence)
MNX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Currarino syndrome 176450
Tags
Green Green List (high evidence)
MPDU1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type If 609180
Tags
Green Green List (high evidence)
MSX2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis, type 2 604757
  • Parietal foramina 1 168500
  • Parietal foramina with cleidocranial dysplasia 168550
Tags
Green Green List (high evidence)
MYCN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Tags
Green Green List (high evidence)
NAGLU
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Tags
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
Tags
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
Tags
Green Green List (high evidence)
NEU1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Sialidosis, type I 256550
  • Sialidosis, type II 256550
Tags
Green Green List (high evidence)
NF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neurofibromatosis, familial spinal 162210
  • Neurofibromatosis, type 1 162200
  • Neurofibromatosis-Noonan syndrome 601321
Tags
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
Tags
Green Green List (high evidence)
NIN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Seckel syndrome 7 614851
Tags
Green Green List (high evidence)
NIPBL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cornelia de Lange syndrome 1 122470
Tags
Green Green List (high evidence)
NKX3-2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia 613330
Tags
Green Green List (high evidence)
NLRP3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CINCA (Infantile-onset multisystem inflammatory disease) 607115
Tags
Green Green List (high evidence)
NOG
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
NOTCH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Adams-Oliver syndrome 5, 616028
  • Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)
  • AOS
  • Limb, scalp and skull defects
Tags
Green Green List (high evidence)
NOTCH2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Alagille syndrome 2 610205
  • Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500
Tags
Green Green List (high evidence)
NPR2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Acromesomelic dysplasia, Maroteaux type 602875
  • Epiphyseal chondrodysplasia, Miura type 615923
  • Short stature with nonspecific skeletal abnormalities 616255
Tags
Green Green List (high evidence)
NSD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Sotos syndrome 1 117550
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
  • CK syndrome 300831
Tags
Green Green List (high evidence)
OBSL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-M syndrome 2 612921
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 10 300804
  • Orofaciodigital syndrome I 311200 XLD
  • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Tags
Green Green List (high evidence)
ORC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meier-Gorlin syndrome 1 224690
Tags
Green Green List (high evidence)
ORC4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meier-Gorlin syndrome 2 613800
Tags
Green Green List (high evidence)
ORC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meier-Gorlin syndrome 3 613803
Tags
Green Green List (high evidence)
OSTM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 5 259720
Tags
Green Green List (high evidence)
P3H1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Osteogenesis imperfecta, type VIII 610915
Tags
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
Tags
Green Green List (high evidence)
PCNT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
Tags
Green Green List (high evidence)
PCYT1A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Tags
Green Green List (high evidence)
PDE3A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertension and brachydactyly syndrome, 112410
Tags
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
Tags
Green Green List (high evidence)
PEX5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) 214110
  • Rhizomelic chondrodysplasia punctata, type 5 616716
Tags
Green Green List (high evidence)
PEX7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Rhizomelic CDP type 1
  • Rhizomelic chondrodysplasia punctata, type 1, 215100
Tags
Green Green List (high evidence)
PGM3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 23 615816
Tags
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
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant 307800
Tags
Green Green List (high evidence)
PHGDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neu-Laxova syndrome 1 256520
  • Phosphoglycerate dehydrogenase deficiency 601815
Tags
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
Tags
Green Green List (high evidence)
PIGV
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1 239300
Tags
Green Green List (high evidence)
PIK3R1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • SHORT syndrome 269880
Tags
Green Green List (high evidence)
PITX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
  • Liebenberg syndrome 186550
Tags
Green Green List (high evidence)
PLOD2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
Phenotypes
  • Bruck syndrome 2 609220
Tags
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
  • Expert Review Green
Phenotypes
  • Bone mineral density QTL18, osteoporosis 300910
Tags
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
Tags
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
Tags
Green Green List (high evidence)
POLR1C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Treacher Collins syndrome 3 248390
Tags
Green Green List (high evidence)
POLR1D
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Treacher Collins syndrome 2 613717
Tags
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
Tags
Green Green List (high evidence)
POR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Tags
Green Green List (high evidence)
PPIB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteogenesis imperfecta, type IX 259440
Tags
Green Green List (high evidence)
PRKAR1A
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Acrodysostosis 1, with or without hormone resistance 101800
  • Myxoma, intracardiac 255960
  • Pigmented nodular adrenocortical disease, primary, 1 610489
Tags
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
Tags
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
Tags
Green Green List (high evidence)
PSPH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Phosphoserine phosphatase deficiency 614023
Tags
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
Tags
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
Tags
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
Tags
Green Green List (high evidence)
PTPN11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • LEOPARD syndrome 1 151100
  • Metachondromatosis 156250
  • Noonan syndrome 1 163950
Tags
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
Tags
Green Green List (high evidence)
RAB23
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Carpenter syndrome 201000
Tags
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
Tags
Green Green List (high evidence)
RBM8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Thrombocytopenia-absent radius syndrome 274000
Tags
Green Green List (high evidence)
RBPJ
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Adams-Oliver syndrome 3, 614814
Tags
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
Tags
Green Green List (high evidence)
RFT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type In 612015
Tags
Green Green List (high evidence)
RMRP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brachydactyly, type B1 113000
  • Robinow syndrome, autosomal recessive 268310
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 7 611560
  • Meckel syndrome 5 611561
Tags
Green Green List (high evidence)
RUNX2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
SALL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Tags
Green Green List (high evidence)
SALL4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Okihiro (Duane-radial ray) syndrome 607323
  • IVIC syndrome 147750
Tags
Green Green List (high evidence)
SBDS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Shwachman-Diamond syndrome 260400
Tags
Green Green List (high evidence)
SCARF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Van den Ende-Gupta syndrome 600920
Tags
Green Green List (high evidence)
SEC24D
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Cole-Carpenter syndrome
  • Osteogenesis Imperfecta, Cole Carpenter syndrome
  • SYNDROMIC OSTEOGENESIS IMPERFECTA
Tags
Green Green List (high evidence)
SERPINF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • OI/osteoporosis
  • Osteogenesis imperfecta, type VI, 613982
  • Osteogenesis Imperfecta, Recessive
  • osteogenesis imperfecta
Tags
Green Green List (high evidence)
SERPINH1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
Tags
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
Tags
Green Green List (high evidence)
SF3B4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acrofacial dysostosis 1, Nager type 154400
Tags
Green Green List (high evidence)
SFRP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pyle disease 265900
  • PYL
  • Metaphyseal dysplasia
Tags
Green Green List (high evidence)
SGSH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
Tags
Green Green List (high evidence)
SH3BP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cherubism 118400
Tags
Green Green List (high evidence)
SH3PXD2B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Frank-ter Haar syndrome 249420
Tags
Green Green List (high evidence)
SHOX
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Langer mesomelic dysplasia 249700
  • Leri-Weill dyschondrosteosis 127300
  • Short stature, idiopathic familial 300582
Tags
Green Green List (high evidence)
SKI
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Shprintzen-Goldberg syndrome 182212
Tags
Green Green List (high evidence)
SLC17A5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Sialic acid storage disorder, infantile 269920
Tags
Green Green List (high evidence)
SLC26A2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • ACG1B,DD,rMED
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Recessive
  • Epiphyseal dysplasia, multiple, 4
Tags
Green Green List (high evidence)
SLC29A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome 602782
Tags
Green Green List (high evidence)
SLC34A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypophosphatemic rickets with hypercalciuria 241530
Tags
Green Green List (high evidence)
SLC35D1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schneckenbecken dysplasia 269250
Tags
Green Green List (high evidence)
SLC39A13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350
Tags
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
Tags
Green Green List (high evidence)
SMAD3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Loeys-Dietz syndrome 3 613795
Tags
Green Green List (high evidence)
SMAD4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Myhre syndrome 139210
Tags
Green Green List (high evidence)
SMARCAL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schimke immunoosseous dysplasia 242900
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cornelia de Lange syndrome 2 300590
Tags
Green Green List (high evidence)
SMC3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cornelia de Lange syndrome 3 610759
Tags
Green Green List (high evidence)
SMOC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ophthalmo-acromelic syndrome
  • Microphthalmia with limb anomalies 206920
  • Polydactyly
Tags
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
Tags
Green Green List (high evidence)
SNX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteopetrosis, autosomal recessive 8 615085
Tags
Green Green List (high evidence)
SOST
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Craniodiaphyseal dysplasia, autosomal dominant 122860
  • Sclerosteosis 1 269500
  • Van Buchem disease 239100
Tags
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
Tags
Green Green List (high evidence)
SUMF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Multiple sulfatase deficiency 272200
Tags
Green Green List (high evidence)
TALDO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Transaldolase deficiency 606003
Tags
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
Tags
Green Green List (high evidence)
TBX15
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cousin syndrome 260660
Tags
Green Green List (high evidence)
TBX3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ulnar-mammary syndrome 181450
Tags
Green Green List (high evidence)
TBX4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ischiocoxopodopatellar syndrome 147891
Tags
Green Green List (high evidence)
TBX5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holt-Oram syndrome 142900
Tags
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
Tags
Green Green List (high evidence)
TBXAS1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ghosal hematodiaphyseal syndrome 231095
Tags
Green Green List (high evidence)
TCF12
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis 3 615314
Tags
Green Green List (high evidence)
TCIRG1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteopetrosis, autosomal recessive 1 259700
Tags
Green Green List (high evidence)
TCOF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Treacher Collins syndrome 1 154500
Tags
Green Green List (high evidence)
TCTEX1D2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
Tags
Green Green List (high evidence)
TCTN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel syndrome 8 613885
  • Joubert syndrome 24 616654
Tags
Green Green List (high evidence)
TCTN3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 18 614815
  • Orofaciodigital syndrome IV 258860
Tags
Green Green List (high evidence)
TERT
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989
Tags
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
Tags
Green Green List (high evidence)
TGFB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Loeys-Dietz syndrome 4 614816
Tags
Green Green List (high evidence)
TGFBR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Loeys-Dietz syndrome 1 609192
Tags
Green Green List (high evidence)
TGFBR2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Loeys-Dietz syndrome 2 610168
Tags
Green Green List (high evidence)
THPO
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Thrombocythemia 1 187950 (rare presentation with congenital limb defects)
Tags
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
Tags
Green Green List (high evidence)
TMEM165
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIk 614727
Tags
Green Green List (high evidence)
TMEM216
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 2 608091
  • Meckel syndrome 2 603194
Tags
Green Green List (high evidence)
TMEM231
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Joubert syndrome 20 614970
  • Meckel syndrome 11 615397
Tags
Green Green List (high evidence)
TMEM38B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type XIV 615066
  • Osteogenesis imperfecta, type XIV, 615066
  • osteogenesis imperfecta
Tags
Green Green List (high evidence)
TMEM67
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 6 610688
  • Meckel syndrome 3 607361
  • {Bardet-Biedl syndrome 14, modifier of} 615991
Tags
Green Green List (high evidence)
TNFRSF11A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Osteolysis, familial expansile 174810
  • Osteopetrosis, autosomal recessive 7 612301
  • Paget disease of bone 2, early-onset 602080
Tags
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
Tags
Green Green List (high evidence)
TNFSF11
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteopetrosis, autosomal recessive 2 259710
Tags
Green Green List (high evidence)
TP63
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
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
Tags
Green Green List (high evidence)
TREM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nasu-Hakola disease 221770
Tags
Green Green List (high evidence)
TRIP11
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achondrogenesis, type IA 200600
Tags
Green Green List (high evidence)
TRPS1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Trichorhinophalangeal syndrome, type I 190350
  • Trichorhinophalangeal syndrome, type III 190351
Tags
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
Tags
Green Green List (high evidence)
TTC21B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • SRTD4
  • Asphyxiating Thoracic Dystrophy
  • Nephronophthisis 12, 613820
Tags
Green Green List (high evidence)
TWIST1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis, type 1 123100
  • Robinow-Sorauf syndrome 180750
  • Saethre-Chotzen syndrome 101400
  • Saethre-Chotzen syndrome with eyelid anomalies 101400
Tags
Green Green List (high evidence)
TWIST2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ablepharon-macrostomia syndrome 200110
  • Barber-Say syndrome 209885
Tags
Green Green List (high evidence)
TYROBP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Nasu-Hakola disease 221770
Tags
Green Green List (high evidence)
WDR19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • SRTD5
  • Asphyxiating thoracic dystrophy 5, 614376
Tags
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
Tags
Green Green List (high evidence)
WDR35
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cranioectodermal dysplasia 2 613610
  • Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Tags
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
Tags
Green Green List (high evidence)
WISP3
3 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
Tags
  • new-gene-name
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
Tags
Green Green List (high evidence)
WNT10B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Split-hand/foot malformation 6 225300
Tags
Green Green List (high evidence)
WNT5A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Robinow syndrome, autosomal dominant 1 180700
Tags
Green Green List (high evidence)
WNT7A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fuhrmann syndrome 228930
  • Ulna and fibula, absence of, with severe limb deficiency 276820
Tags
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
Tags
Green Green List (high evidence)
XYLT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2 615777
Tags
Green Green List (high evidence)
XYLT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spondyloocular syndrome 605822
Tags
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
Tags
Green Green List (high evidence)
ZIC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Craniosynostosis 6 616602
Tags
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
Tags
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
Tags
Amber Amber List (moderate evidence)
FBLN1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
Tags
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
Tags
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
  • deletions
  • locus-type-rna-long-non-coding
  • watchlist
Red Red List (low evidence)
ACVR2B
1 review
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Heterotaxy, visceral, 4, autosomal 613751
Tags
Red Red List (low evidence)
ADGRV1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
ADI1
0 reviews
Unknown
Sources
Phenotypes
  • No OMIM or G2P phenotype
Tags
Red Red List (low evidence)
AFF3
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM or G2P phenotype
Tags
Red Red List (low evidence)
AHI1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
AIPL1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
AKT1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Cowden syndrome 6 615109
  • Proteus syndrome, somatic 176920
Tags
Red Red List (low evidence)
ALX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Frontonasal dysplasia 3 613456
Tags
Red Red List (low evidence)
ARID1A
0 reviews
Not set
Sources
Phenotypes
  • Coffin-Siris
Tags
Red Red List (low evidence)
ARID1B
0 reviews
Not set
Sources
Phenotypes
  • Coffin-Siris
Tags
Red Red List (low evidence)
ARL13B
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
ARL6
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
ATXN10
1 review
Not set
Sources
  • Emory Genetics Laboratory
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN10_ATTCT
STR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia , 603516
Tags
  • STR
Red Red List (low evidence)
B9D2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel syndrome 10 614175
Tags
Red Red List (low evidence)
BANF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nestor-Guillermo progeria syndrome 614008
Tags
Red Red List (low evidence)
BBS1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
BBS10
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
BBS12
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
BBS2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
BBS4
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
BBS5
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
BBS7
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
BBS9
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
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
Tags
Red Red List (low evidence)
CCDC39
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CCDC40
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CDC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meier-Gorlin syndrome 5 613805
Tags
Red Red List (low evidence)
CDH23
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CEP164
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CEP41
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CFTR
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CLRN1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
COG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIg 611209
Tags
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)
Tags
Red Red List (low evidence)
COL5A1
0 reviews
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
CRB1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
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
Tags
Red Red List (low evidence)
CRELD1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CRX
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
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
Tags
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
Tags
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
Tags
Red Red List (low evidence)
DNAAF1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
DNAAF2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
DNAAF3
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
DNAH11
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
DNAH5
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
DNAI1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
DNAI2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
DNAL1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
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)
Tags
Red Red List (low evidence)
DPM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type Iu 615042
Tags
Red Red List (low evidence)
DPM3
2 reviews
1 green
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type Io 612937
Tags
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
Tags
Red Red List (low evidence)
EP300
0 reviews
Not set
Sources
Phenotypes
  • Rubinstein Taybi syndrome
Tags
Red Red List (low evidence)
ESR1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
ETF1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FBXW4
2 reviews
1 green
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
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.
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Animal models with skeletal dysplastic phenotypes
Tags
Red Red List (low evidence)
FOXC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Tags
Red Red List (low evidence)
FOXH1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
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
Tags
Red Red List (low evidence)
GDF1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GLIS2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GREM1
3 reviews
1 green 1 red
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • UKGTN
Tags
Red Red List (low evidence)
GUCY2D
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
HDAC5
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • osteoporosis
Tags
Red Red List (low evidence)
HOXA11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432
Tags
Red Red List (low evidence)
HYLS1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
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
Tags
Red Red List (low evidence)
IFT88
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • Expert list
  • UKGTN
Tags
Red Red List (low evidence)
IMPDH1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
INVS
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
IQCB1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
KAT6A
0 reviews
Not set
Sources
Phenotypes
  • syndromatic cranyosynostosis
Tags
Red Red List (low evidence)
KAT6B
0 reviews
Not set
Sources
Phenotypes
  • GTPTS,Ohdo
Tags
Red Red List (low evidence)
KCNJ13
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
LCA5
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
LEFTY2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
LFNG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spondylocostal dysostosis 3, autosomal recessive 609813
Tags
Red Red List (low evidence)
LOXL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Stickler syndrome
Tags
Red Red List (low evidence)
LRAT
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
LRP6
0 reviews
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
MAN2C1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • alpha-Mannosidosis
Tags
Red Red List (low evidence)
MCM5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Meier-Gorlin syndrome 8 617564
Tags
Red Red List (low evidence)
MKKS
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MMP14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Winchester syndrome 277950
Tags
Red Red List (low evidence)
MMP9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Metaphyseal anadysplasia 2 613073
Tags
Red Red List (low evidence)
MTAP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250
Tags
Red Red List (low evidence)
MYO7A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
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
Tags
Red Red List (low evidence)
NEK8
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NKX2-5
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NME8
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NODAL
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NPHP1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NPHP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meckel syndrome 7 267010
Tags
Red Red List (low evidence)
NPHP4
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NPPC
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Overgrowth syndrome with 2q37 translocations
Tags
Red Red List (low evidence)
P4HB
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Cole-Carpenter syndrome 1 112240
Tags
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
Tags
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
Tags
Red Red List (low evidence)
PCDH15
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
PHF6
0 reviews
Not set
Sources
Phenotypes
  • Coffin-Siris syndrome
Tags
Red Red List (low evidence)
PIN1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • No phenotype associated with this gene
Tags
Red Red List (low evidence)
PIR
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Osteoporosis
Tags
Red Red List (low evidence)
PKD2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
PKHD1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
PLEKHM1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Osteopetrosis, autosomal recessive 6 611497
Tags
Red Red List (low evidence)
PLK4
0 reviews
Not set
Sources
Phenotypes
  • Microcephalic primordial dwarfism
Tags
Red Red List (low evidence)
PLOD1
0 reviews
Not set
Sources
  • Expert
Tags
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
Tags
Red Red List (low evidence)
RAB33B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Smith-McCort dysplasia 2 615222
Tags
Red Red List (low evidence)
RAB3GAP2
0 reviews
Not set
Sources
Phenotypes
  • Martsolf syndrome
Tags
Red Red List (low evidence)
RAD21
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cornelia de Lange syndrome 4 614701
Tags
Red Red List (low evidence)
RD3
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
RDH12
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
RPE65
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
RPGR
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
RPGRIP1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
RSPH4A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
RSPH9
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SCNN1A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SCNN1B
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SCNN1G
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SDCCAG8
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SEM1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • SHFM1
Tags
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)
Tags
Red Red List (low evidence)
SLC10A7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • skeletal dysplasia and amelogenesis imperfecta
Tags
Red Red List (low evidence)
SLCO5A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mesomelia-synostoses syndrome 600383
Tags
Red Red List (low evidence)
SMARCA2
0 reviews
Not set
Sources
Phenotypes
  • Coffin Siris syndrome
Tags
Red Red List (low evidence)
SMARCA4
0 reviews
Not set
Sources
Phenotypes
  • Coffin Siris syndrome
Tags
Red Red List (low evidence)
SMARCB1
0 reviews
Not set
Sources
Phenotypes
  • Coffin Siris syndrome
Tags
Red Red List (low evidence)
SMARCE1
0 reviews
Not set
Sources
Phenotypes
  • Coffin-Siris syndrome
Tags
Red Red List (low evidence)
SOX11
0 reviews
Not set
Sources
Phenotypes
  • Coffin-Siris syndrome
Tags
Red Red List (low evidence)
SP7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteogenesis imperfecta, type XII 613849
Tags
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
Tags
Red Red List (low evidence)
SPATA7
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SPECC1L
2 reviews
1 green
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Facial clefting, oblique, 1 600251
  • Opitz GBBB syndrome, type II 145410
  • Teebi hyperterorism like syndrome 145420
Tags
Red Red List (low evidence)
SULF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Mesomelia-synostoses syndrome 600383
Tags
Red Red List (low evidence)
TAPT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Tags
Red Red List (low evidence)
TCTN1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
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
Tags
Red Red List (low evidence)
TMEM138
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TMEM237
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TNXB
0 reviews
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
TOPORS
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TRIM32
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
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
Tags
Red Red List (low evidence)
TSC1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TSC2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TTC8
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TULP1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
UMOD
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
USH1C
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
USH1G
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
USH2A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
USP9X
1 review
Not set
Sources
Phenotypes
  • New syndrom with skd
Tags
Red Red List (low evidence)
VAC14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies)
Tags
Red Red List (low evidence)
VDR
0 reviews
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
VHL
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
WDPCP
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
WHRN
1 review
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
WNT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Tetra-amelia syndrome 273395
Tags
Red Red List (low evidence)
XPNPEP3
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
ZBTB16
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Skeletal defects, genital hypoplasia, and mental retardation 612447
Tags
Red Red List (low evidence)
ZIC3
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
ZNF423
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Tags

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