Description
This gene panel is in development. As a reviewer, please add new genes related to this disease category or add reviews/ratings to the genes. Contact panelapp@genomicsengland.co.uk if you need further assistance.

This gene panel is designed to cover the following limb disorders, where limb disorder is the primary or secondary feature :

- Brachydactyly 
- Oligodactyly (HP:0012165)
- Ectrodactyly (HP:0100257)
- Syndactyly (HP:0001159)
- Polydactyly (HP:0010442)
- Amelia (HP:0009827)
- Phocomelia (HP:0009829)
- Ulnar ray abnormalities
- Radial ray abnormalities

10 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

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Dimitris Polychronopoulos (Genomics England)

    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

216 Entities

150 reviewed, 133 green

List Entity Reviews Mode of inheritance Details
216 Entitiess
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Adams-Oliver syndrome 1, 100300
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • CDPXL
  • Chondrodysplasia punctata, X-linked recessive, 302950
  • X-linked recessive chondrodysplasia punctata
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Tags
Green Green List (high evidence)
BHLHA9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432
  • Polydactyly
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Acromesomelic dysplasia, Demirhan type, 609441
  • Brachydactyly, type A1, D 616849
  • Brachydactyly, type A2, 112600
Tags
Green Green List (high evidence)
BRCA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group D1, 605724
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
BRIP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Radial Ray abnormality
  • Fanconi anemia, complementation group J, 609054
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 6, 612284
  • Polydactyly
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 14, 615991
  • Joubert syndrome 5, 610188
  • Leber congenital amaurosis 10
  • Meckel syndrome 4,611134
  • Senior-Loken syndrome 6,610189
  • Polydactyly
Tags
Green Green List (high evidence)
DDX59
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome V 174300
  • Polydactyly
Tags
Green Green List (high evidence)
DLX5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Split-hand/foot malformation 1 with sensorineural hearing loss, 220600
Tags
Green Green List (high evidence)
DOCK6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • Viapath
Phenotypes
  • Adams-Oliver syndrome 2, 614219
Tags
Green Green List (high evidence)
DVL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Robinow syndrome, autosomal dominant 2, 616331
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Chondrodysplasia punctata, X-linked dominant 302960
Tags
Green Green List (high evidence)
EOGT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • UKGTN
  • Viapath
Phenotypes
  • Adams Oliver syndrome 4, 615297
Tags
Green Green List (high evidence)
ERCC4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group Q, 615272
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
ESCO2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • absence of radii, SC phocomelia syndrome, 269000
  • Roberts syndrome, 268300
  • radial aplasia
Tags
Green Green List (high evidence)
FAM58A
4 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
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • STAR syndrome, 300707
Tags
  • new-gene-name
Green Green List (high evidence)
FANCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group A, 227650
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
FANCB
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group B, 300514
  • VACTERL Association with Hydrocephalus
  • Vacterl Association, X-Linked, With Or Without Hydrocephalus
  • Fanconi Anemia, Complementation Group B
  • VACTERL-Hydrocephalus Syndrome
  • Fanconi Anemia, X-Linked
  • Radial Ray abnormality
  • Fanconi Anemia Type B
Tags
Green Green List (high evidence)
FANCC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group C, 227645
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
FANCD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group D2, 227646
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
FANCE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group E, 600901
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
FANCF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group F, 603467
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
FANCG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Radial Ray abnormality
  • Fanconi anemia, complementation group G, 614082
Tags
Green Green List (high evidence)
FANCI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group I, 609053
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
FANCL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Radial Ray abnormality
  • Fanconi anemia, complementation group L, 614083
Tags
Green Green List (high evidence)
FGD1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Aarskog-Scott syndrome 305400
Tags
Green Green List (high evidence)
FGF10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
  • LADD syndrome 149730
  • LADD syndrome, 149730
  • short radius
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Metacarpal 4-5 fusion, 309630
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
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
  • Polydactyly
Tags
Green Green List (high evidence)
FGFR2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • LADD syndrome 149730
  • LADD syndrome, 149730
  • Craniosynostosis, nonspecific Crouzon syndrome 123500
  • short radius
  • Craniofacial-skeletal-dermatologic dysplasia 101600
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
  • Gastric cancer, somatic 613659
  • Beare-Stevenson cutis gyrata syndrome 123790
  • Jackson-Weiss syndrome 123150
  • Pfeiffer syndrome 101600
  • Bent bone dysplasia syndrome 614592
  • Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
  • Apert syndrome 101200
Tags
Green Green List (high evidence)
FGFR3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Thanatophoric dysplasia, type II 187601
  • Polydactyly
  • LADD syndrome 149730
  • LADD syndrome, 149730
  • short radius
  • Achondroplasia 100800
  • SADDAN 616482
  • Thanatophoric dysplasia, type I 187600
  • Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
  • Hypochondroplasia 146000
  • CATSHL syndrome 610474
  • Crouzon syndrome with acanthosis nigricans 612247
  • Muenke syndrome 602849
Tags
Green Green List (high evidence)
FIG4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Aplastic/hypoplastic thumbs
  • Yunis-Varon syndrome, 216340
  • absent thumbs
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
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Frontometaphyseal dysplasia 305620 XLR
  • Melnick-Needles syndrome, 309350
  • Osteodysplasty Melnick Needles 309350 XLD
  • Otopalatodigital syndrome, type II 304120 XLD
  • Terminal osseous dysplasia 300244
Tags
Green Green List (high evidence)
FRAS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fraser syndrome 1 219000
  • Polydactyly
Tags
Green Green List (high evidence)
FREM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fraser syndrome 2 617666
  • Polydactyly
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
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
  • Polydactyly
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
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)
GLI2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Holoprosencephaly 9 610829
  • Culler-Jones syndrome 615849
  • Polydactyly
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
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
  • Polydactyly
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
  • London South East RGC GSTT
  • Viapath
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)
GPC3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1 312870
  • Polydactyly
Tags
Green Green List (high evidence)
GRIP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fraser syndrome 3 617667
  • Polydactyly
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
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
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cornelia de Lange syndrome 5, 300882
Tags
Green Green List (high evidence)
HOXA13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Hand-foot-genital syndrome 140000
  • Hand-foot-uterus syndrome, 140000
  • Guttmacher syndrome 176305
  • Polydactyly
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachydactyly-syndactyly syndrome 610713
  • Brachydactyly, type D 113200
  • Brachydactyly, type E 113300
  • Syndactyly, type V 186300
  • Synpolydactyly 1 186000
  • Polydactyly
Tags
Green Green List (high evidence)
ICK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • ECO
  • Short-rib thoracic dysplasia with polydactyly
  • Rhizomelia
  • Polydactyly
  • SRTD
  • Mesomelia
  • Endocrine-cerebroosteodysplasia, 612651
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Acrocapitofemoral dysplasia 607778
  • Brachydactyly, type A1 112500
  • syndactyly and craniosynostosis
Tags
  • cnv
Green Green List (high evidence)
KCNH1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hypoplasia of terminal phalanges
  • Temple-Baraitser syndrome, 611816
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Al-Gazali-Bakalinova syndrome 607131
  • Hydrolethalus syndrome 2 614120
  • Acrocallosal syndrome 200990
  • Joubert syndrome 12 200990
  • Polydactyly
Tags
Green Green List (high evidence)
LBR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • mesomelia
  • Greenberg skeletal dysplasia, 215140
  • rhizomelia
  • post-axial polydactyly
  • Polydactyly
Tags
Green Green List (high evidence)
LMBR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Syndactyly, type IV 186200
  • Laurin-Sandrow syndrome,135750
  • Acheiropody 200500
  • Triphalangeal thumb type I,174500
  • Triphalangeal thumb, type I 174500
  • Laurin-Sandrow syndrome 135750
  • Polydactyly, preaxial type II 174500
  • Hypoplastic or aplastic tibia with polydactyly 188740
  • Triphalangeal thumb-polysyndactyly syndrome 174500
  • Triphalangeal Thumb-Polysyndactyly Syndrome
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Nail-patella syndrome
Tags
Green Green List (high evidence)
LRP4
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Cenani-Lenz syndactyly syndrome, 212780
  • CLSS
  • Cenani syndactyly
  • Cenani-Lenz syndactyly
  • Syndactyly type 7
  • Polydactyly
Tags
Green Green List (high evidence)
LZTFL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 17 615994
  • Polydactyly
Tags
Green Green List (high evidence)
MEGF8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Carpenter syndrome 2 614976
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 13 615990
  • Meckel syndrome 1 249000
  • Polydactyly
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Tags
Green Green List (high evidence)
NIPBL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • CDLS1
  • upper limb anomalies
  • Cornelia de Lange syndrome 1 122470
  • Dislocation of the radial head
  • Cornelia de Lange syndrome 1, 122470
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
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)
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 10 300804
  • Orofaciodigital syndrome I 311200 XLD
  • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
  • Polydactyly
Tags
Green Green List (high evidence)
PALB2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group N, 610832
  • Radial Ray abnormality
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
Tags
Green Green List (high evidence)
PIK3CA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrodactyly, somatic 155500
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
  • CLOVE syndrome, somatic 612918
  • Polydactyly
  • CLAPO syndrome, somatic 613089
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
PIK3R2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
  • Polydactyly
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
  • Liebenberg syndrome 186550
  • Polydactyly
Tags
Green Green List (high evidence)
PTHLH
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Brachydactyly, type E2
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Carpenter syndrome 201000
  • Polydactyly
Tags
Green Green List (high evidence)
RBM8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Thrombocytopenia-absent radius syndrome, 274000
  • 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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • Viapath
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
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Baller-Gerold syndrome 218600
  • RAPILINO syndrome 266280
  • RAPILINO syndrome, 266280
  • Rothmund-Thomson syndrome, 268400
  • Rothmund-Thomson syndrome 268400
  • Baller-Gerold syndrome, 218600
Tags
Green Green List (high evidence)
RNU4ATAC
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • Viapath
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I 210710
  • Roifman syndrome 616651
Tags
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 7 611560
  • Meckel syndrome 5 611561
  • Polydactyly
Tags
Green Green List (high evidence)
RPL11
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 7, 612562
  • hypoplastic thumb
  • Radial Ray abnormality
  • thumb abnormalities
Tags
Green Green List (high evidence)
RPL35A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • upper limb malformation
  • Diamond-Blackfan anemia 5, 612528
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
RPL5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 6, 612561
  • Radial Ray abnormality
  • thumb abnormalities
Tags
Green Green List (high evidence)
RPS10
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • upper limb malformation
  • Diamond-Blackfan anemia 9, 613308
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
RPS17
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 4, 612527
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
RPS19
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mild radial hypoplasia
  • Diamond-Blackfan anemia 1, 105650
  • Hypoplastic thumbs
  • Absent thumbs
  • Radial Ray abnormality
  • Triphalangeal thumbs
Tags
Green Green List (high evidence)
RPS24
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 3, 610629
  • Radial Ray abnormality
  • upper limb malformation
Tags
Green Green List (high evidence)
RPS26
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 10, 613309
  • upper limb malformation
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
RPS7
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 8, 612563
  • upper limb malformation
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
SALL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Radial Ray abnormality
  • Polydactyly
  • Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480
  • 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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • IVIC syndrome, 147750
  • Radial Ray abnormality
  • IVIC syndrome 147750
  • Duane-radial ray syndrome, 607323
  • Okihiro (Duane-radial ray) syndrome 607323
Tags
Green Green List (high evidence)
SF3B4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • Viapath
Phenotypes
  • Acrofacial dysostosis 1, Nager type, 154400
  • Acrofacial dysostosis 1, Nager type 154400
Tags
Green Green List (high evidence)
SHOX
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Langer mesomelic dysplasia, 249700
  • dorsolateral bowed, short radii
  • bowing of the radius
  • curved radius
  • radioulnar shortening
  • Leri-Weill dyschondrosteosis, 127300
Tags
Green Green List (high evidence)
SLX4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group P, 613951
  • Radial Ray abnormality
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • Viapath
Phenotypes
  • Cornelia de Lange syndrome 2, 300590
  • Cornelia de Lange syndrome 2 300590
Tags
Green Green List (high evidence)
SMC3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • Viapath
Phenotypes
  • Cornelia de Lange syndrome 3 610759
  • Cornelia de Lange syndrome 3, 610759
Tags
Green Green List (high evidence)
SMOC1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Ophthalmo-acromelic syndrome
  • Microphthalmia with limb anomalies 206920
  • Polydactyly
Tags
Green Green List (high evidence)
TBX3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Ulnar-mammary syndrome 181450
  • Polydactyly
  • Ulnar-mammary syndrome, 181450
  • Radial Ray abnormality
  • Hypoplastic/absent/deformed radius
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Ischiocoxopodopatellar syndrome
Tags
Green Green List (high evidence)
TBX5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Holt-Oram syndrome,142900
  • Polydactyly
  • Holt-Oram syndrome 142900
  • Radial Ray abnormality
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
  • London South East RGC GSTT
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 6 610688
  • Meckel syndrome 3 607361
  • {Bardet-Biedl syndrome 14, modifier of} 615991
  • Polydactyly
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
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)
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
Phenotypes
  • Trichorhinophalangeal syndrome, type I 190350
  • Trichorhinophalangeal syndrome, type III 190351
Tags
Green Green List (high evidence)
TWIST1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Robinow-Sorauf syndrome, 180750
  • Saethre-Chotzen syndrome, 101400
  • Polydactyly
Tags
Green Green List (high evidence)
UBE2T
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Fanconi Anemia, Complementation Group T, 616435
Tags
Green Green List (high evidence)
USP9X
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked 99, syndromic, female-restricted
  • Polydactyly
Tags
Green Green List (high evidence)
WDR60
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly 615503
  • Polydactyly
Tags
Green Green List (high evidence)
WNT10B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • Viapath
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
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
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Viapath
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Ulna and fibula, absence of, with severe limb deficiency 276820
  • absence of a radius
  • Fuhrmann syndrome, 228930
  • Fuhrmann syndrome 228930
  • Ulna and fibula, absence of, with severe limb deficiency, 276820
  • Short, bowed radii
Tags
Green Green List (high evidence)
ZIC3
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • VACTERL association, X-linked 314390
Tags
Green Green List (high evidence)
ARL6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 3 600151
Tags
Green Green List (high evidence)
BBS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 1209900
Tags
Green Green List (high evidence)
BMP2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Brachydactyly, type A2 112600
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877
Tags
  • cnv
  • duplication
Green Green List (high evidence)
BMP4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Microphthalmia, syndromic 6 607932
Tags
Green Green List (high evidence)
CCND2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Tags
Green Green List (high evidence)
CHSY1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
Tags
Green Green List (high evidence)
CKAP2L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Filippi syndrome 272440
  • FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Tags
Green Green List (high evidence)
COL2A1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Platyspondylic skeletal dysplasia, Torrance type 151210
  • Achondrogenesis, type II or hypochondrogenesis 200610
  • Spondyloperipheral dysplasia 271700
Tags
Green Green List (high evidence)
DLL4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Adams-Oliver syndrome 6 616589
Tags
Green Green List (high evidence)
DVL3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Robinow syndrome, autosomal dominant 3 616894
Tags
Green Green List (high evidence)
DYNC2H1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly 613091
  • Polydactyly
Tags
Green Green List (high evidence)
EFTUD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Tags
Green Green List (high evidence)
KIAA0586
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly 616546
  • Polydactyly
  • Joubert syndrome 23 616490
Tags
Green Green List (high evidence)
NEK1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly 263520
  • Polydactyly
Tags
Green Green List (high evidence)
NOTCH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
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)
PDE3A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hypertension and brachydactyly syndrome 112410
Tags
Green Green List (high evidence)
PORCN
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • focal dermal hypoplasia 305600
  • Polydactyly
Tags
Green Green List (high evidence)
PRMT7
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
  • Pseudohypoparathyroidism-like disorder
Tags
Green Green List (high evidence)
SFRP4
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pyle disease, 265900
  • PYL
  • Metaphyseal dysplasia
Tags
Green Green List (high evidence)
SLC26A2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Diastrophic dysplasia, broad bone-platyspondylic variant
  • Diastrophic dysplasia
  • Epiphyseal dysplasia, multiple, 4
  • Atelosteogenesis, type II
Tags
Green Green List (high evidence)
SMO
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Curry-Jones syndrome, somatic mosaic, MIM:601500
  • Cutaneous syndactyly
  • Preaxial polydactyly
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
TCTN2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Joubert syndrome 24, 616654
  • ?Meckel syndrome 8, 613885
  • postaxial polydactyly
Tags
Green Green List (high evidence)
TCTN3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Joubert syndrome 18, 614815
  • Orofaciodigital syndrome IV, 258860
Tags
Green Green List (high evidence)
TFAP2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Clinodactyly
  • Char syndrome, 169100
Tags
Green Green List (high evidence)
TRPV4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Digital arthropathy-brachydactyly, familial 606835
Tags
Green Green List (high evidence)
WDR34
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly 615633
  • severe asphyxiating thoracic dysplasia
Tags
Green Green List (high evidence)
WDR35
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cranioectodermal dysplasia 2 613610
  • Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Tags
Amber Amber List (moderate evidence)
BTRC
2 reviews
Not set
Sources
  • Expert Review Amber
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Split-hand split-foot malformation 3
Tags
  • cnv
  • microduplication
Amber Amber List (moderate evidence)
FBLN1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
  • SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
Tags
Amber Amber List (moderate evidence)
FGF9
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Multiple synostoses syndrome 3 612961
Tags
Amber Amber List (moderate evidence)
GATA1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Radial Ray abnormality
Tags
Amber Amber List (moderate evidence)
HNRNPK
1 review
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Au-Kline syndrome 616580
  • Polydactyly
Tags
Amber Amber List (moderate evidence)
IFT27
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Bardet-Biedl syndrome 19, 615996
  • Polydactyly
Tags
Amber Amber List (moderate evidence)
IFT43
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 18 with polydactyly 617866
  • Polydactyly
Tags
Amber Amber List (moderate evidence)
IFT52
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, 617102
  • Polydactyly
Tags
Amber Amber List (moderate evidence)
MIR17HG
4 reviews
1 green
Not set
Sources
  • Expert Review Amber
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Feingold syndrome 2 614326
Tags
  • deletions
  • locus-type-rna-long-non-coding
  • watchlist
Amber Amber List (moderate evidence)
ORC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meier-Gorlin syndrome 1
Tags
Amber Amber List (moderate evidence)
RAD51C
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Radial Ray abnormality
  • Fanconi anemia, complementation group O 613390
Tags
Amber Amber List (moderate evidence)
SPINT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Diarrhea 3, secretory sodium, congenital, syndromic, 270420
  • hexadactyly
  • congenital sodium diarrhea with additional syndromic features
Tags
  • watchlist
Amber Amber List (moderate evidence)
TCTEX1D2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
  • Brachydactyly
Tags
  • watchlist
Amber Amber List (moderate evidence)
TFAP2A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Branchiooculofacial syndrome, 113620
  • Clinodactyly
  • Syndactyly
Tags
  • deletions
  • watchlist
Amber Amber List (moderate evidence)
TRAPPC2
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spondyloepiphyseal dysplasia tarda
  • Spondyloepiphyseal dysplasia tarda, 313400
Tags
Amber Amber List (moderate evidence)
UBE3B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Kaufman oculocerebrofacial syndrome 244450
  • Polydactyly
Tags
Amber Amber List (moderate evidence)
ZSWIM6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Acromelic frontonasal dysostosis 603671
Tags
  • missense
  • mosaicism
Red Red List (low evidence)
AHI1
1 review
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Joubert syndrome 3 608629
Tags
Red Red List (low evidence)
AKT3
1 review
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Tags
Red Red List (low evidence)
ALMS1
1 review
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
ALX3
1 review
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
ARMC8
1 review
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
B9D1
1 review
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • ?Meckel syndrome 9 614209
  • Joubert syndrome 27 617120
Tags
Red Red List (low evidence)
B9D2
1 review
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • ?Meckel syndrome 10 614175
  • Joubert syndrome 34 614175
Tags
Red Red List (low evidence)
BBS10
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
BBS12
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
BBS2
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
BBS4
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
BBS5
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
BBS7
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
BBS9
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
C2CD3
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
C5orf42
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
CD96
1 review
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • C syndrome 211750
Tags
Red Red List (low evidence)
CENPF
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
CEP120
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
CEP164
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
CEP41
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
CSPP1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
DLX6
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Split hand/foot malformation 1
Tags
  • polygenic
Red Red List (low evidence)
DVL2
3 reviews
Not set
Sources
  • Expert Review Red
  • London South East RGC GSTT
  • Viapath
Tags
Red Red List (low evidence)
DYNC2LI1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
EVC
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
EVC2
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
FANCM
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Radial Ray abnormality
Tags
Red Red List (low evidence)
FMN1
4 reviews
1 green 2 red
Not set
Sources
  • Expert Review Red
  • London South East RGC GSTT
  • Viapath
Tags
Red Red List (low evidence)
GREM1
6 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Tags
  • structural-variant
  • watchlist
Red Red List (low evidence)
HYLS1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
IFT140
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
IFT172
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
IFT80
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
INPP5E
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
IQCE
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Polydactyly, postaxial, type A7 617642
Tags
Red Red List (low evidence)
MBTPS2
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • IFAP syndrome with or without BRESHECK syndrome 308205
  • Polydactyly
Tags
Red Red List (low evidence)
MIPOL1
3 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Mirror-image polydactyly of hands and feet
Tags
Red Red List (low evidence)
MKKS
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
NPHP3
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
PDE6D
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Joubert syndrome 22 615665
  • Polydactyly
Tags
Red Red List (low evidence)
PNPLA6
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
POLL
2 reviews
Unknown
Sources
  • Expert Review Red
  • Literature
Tags
  • cnv
Red Red List (low evidence)
PROM1
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
RBM10
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • TARP syndrome 311900
Tags
Red Red List (low evidence)
RPL26
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Radial Ray abnormality
Tags
Red Red List (low evidence)
RPS28
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Radial Ray abnormality
Tags
Red Red List (low evidence)
RPS29
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Radial Ray abnormality
Tags
Red Red List (low evidence)
SC5D
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
SDCCAG8
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
SEM1
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Split hand/foot malformation 1, 183600
Tags
  • polygenic
Red Red List (low evidence)
SHH
7 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Preaxial polydactyly
  • holoprosencephaly
  • preaxial polydactyly
  • Polydactyly
Tags
  • regulatory-region
Red Red List (low evidence)
SLC25A21
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial synpolydactyly of the hands and feet
  • familial synpolydactyly of the hands and feet
Tags
  • deletions
Red Red List (low evidence)
SOX9
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Brachydactyly-anonychia
  • brachydactyly-anonychia
Tags
  • duplication
Red Red List (low evidence)
TBX22
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • ?Abruzzo-Erickson syndrome, 302905
  • Cleft palate with ankyloglossia, 303400
  • Radioulnar synostosis
  • upper limb anomalies
  • clinodactyly
Tags
Red Red List (low evidence)
TMEM138
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
TMEM216
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
TMEM231
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
TMEM237
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
TRAF3IP1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
TRIM32
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 11, 615988
  • Polydactyly
Tags
Red Red List (low evidence)
TTC21B
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
TTC8
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
Red Red List (low evidence)
WDPCP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085
Tags
Red Red List (low evidence)
WDR19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Cranioectodermal dysplasia 4 614378
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
Tags
Red Red List (low evidence)
ZNF141
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Polydactyly, postaxial, type A6 615226
  • Polydactyly
Tags
  • watchlist

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