Description
This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This gene panel is designed to cover the following limb disorders, where limb disorder is the primary or secondary feature :
- Brachydactyly (HP:0001156)
- Oligodactyly (HP:0012165)
- Ectrodactyly (HP:0100257)
- Syndactyly (HP:0001159)
- Polydactyly (HP:0010442)
- Amelia (HP:0009827)
- Phocomelia (HP:0009829)
- Ulnar ray abnormalities
- Radial ray abnormalities (HP:0410049)

Rare multisystem ciliopathy genes are not included on this panel. If a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded, the ‘Rare multisystem ciliopathy disorders’ panel (https://panelapp.genomicsengland.co.uk/panels/150/) should be applied in addition for genome analysis. Ciliopathy genes were therefore made grey (removed) on this panel.

12 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • 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

  • BRIDGE consortium (NIHRBR-RD)

    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

217 Entities

215 reviewed, 114 green

List Entity Reviews Mode of inheritance Details
217 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
2 reviews
2 green
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
2 reviews
2 green
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)
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
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
  • 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
4 reviews
3 green
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
3 reviews
1 green
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
2 reviews
2 green
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
5 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
2 reviews
2 green
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
2 reviews
2 green
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
2 reviews
2 green
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
2 reviews
2 green
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
2 reviews
1 green
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
2 reviews
2 green
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
2 reviews
2 green
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
3 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
3 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
3 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
3 reviews
1 green
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
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
  • 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)
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
3 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
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
  • Other
Phenotypes
  • Cornelia de Lange syndrome 5, 300882
Tags
Green Green List (high evidence)
HOXA13
4 reviews
3 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)
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
1 review
1 green
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)
LBR
2 reviews
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
4 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 161200
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)
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)
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
3 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)
PALB2
2 reviews
2 green
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
4 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 613382
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
  • ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Tags
Green Green List (high evidence)
RBM8A
5 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
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
3 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)
RPL11
3 reviews
1 green
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
3 reviews
1 green
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
3 reviews
1 green
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
3 reviews
1 green
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
2 reviews
2 green
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
3 reviews
1 green
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
3 reviews
1 green
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
3 reviews
1 green
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
3 reviews
1 green
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
3 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
4 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
3 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
4 reviews
2 green
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
2 reviews
2 green
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
4 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 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
5 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
  • 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
3 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
3 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
  • UKGTN
  • Viapath
Phenotypes
  • Ischiocoxopodopatellar syndrome 147891
Tags
Green Green List (high evidence)
TBX5
3 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
  • Holt-Oram syndrome,142900
  • Polydactyly
  • Holt-Oram syndrome 142900
  • Radial Ray abnormality
Tags
Green Green List (high evidence)
TP63
3 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
  • 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
3 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
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
4 reviews
1 green
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
3 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
3 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
  • Robinow syndrome, autosomal dominant 1 180700
Tags
Green Green List (high evidence)
WNT7A
3 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
2 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)
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)
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)
GLI3
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
  • 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)
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)
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
Amber Amber List (moderate evidence)
ABL1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congential heart disease, skeletal abnormalities and failure to thrive
  • clinodactyly
  • syndactyly
  • arachnodactyly
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)
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
4 reviews
1 green
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)
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
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)
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)
CD96
1 review
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • C syndrome 211750
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)
FANCM
5 reviews
1 green 2 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)
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)
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
2 reviews
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
2 reviews
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
3 reviews
1 green 1 red
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
4 reviews
1 green
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)
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)
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)
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
No list No list
AHI1
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Joubert syndrome 3 608629
Tags
No list No list
ALMS1
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
ARL6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 3 600151
Tags
No list No list
B9D2
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • ?Meckel syndrome 10 614175
  • Joubert syndrome 34 614175
Tags
No list No list
BBS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 1209900
Tags
No list No list
BBS10
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
BBS12
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
BBS2
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
BBS4
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
BBS5
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
BBS7
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
BBS9
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
C2CD3
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
C5orf42
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
CC2D2A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • 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
No list No list
CENPF
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
CEP120
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
CEP164
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
CEP290
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • 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
No list No list
CEP41
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
CSPP1
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
DDX59
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome V 174300
  • Polydactyly
Tags
No list No list
DYNC2H1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly 613091
  • Polydactyly
Tags
No list No list
DYNC2LI1
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
EVC
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
EVC2
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
HYLS1
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
ICK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • ECO
  • Short-rib thoracic dysplasia with polydactyly
  • Rhizomelia
  • Polydactyly
  • SRTD
  • Mesomelia
  • Endocrine-cerebroosteodysplasia, 612651
Tags
No list No list
IFT140
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
IFT172
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
IFT52
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, 617102
  • Polydactyly
Tags
No list No list
IFT80
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
INPP5E
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
KIAA0586
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly 616546
  • Polydactyly
  • Joubert syndrome 23 616490
Tags
No list No list
KIF7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • 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
No list No list
LZTFL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 17 615994
  • Polydactyly
Tags
No list No list
MKKS
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
MKS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • 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
No list No list
NEK1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly 263520
  • Polydactyly
Tags
No list No list
NPHP3
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
OFD1
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
  • Emory Genetics Laboratory
  • Expert Review Removed
  • 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
No list No list
RPGRIP1L
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • 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
No list No list
SDCCAG8
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
TCTEX1D2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
  • Brachydactyly
Tags
  • watchlist
No list No list
TCTN2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Joubert syndrome 24, 616654
  • ?Meckel syndrome 8, 613885
  • postaxial polydactyly
Tags
No list No list
TCTN3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Joubert syndrome 18, 614815
  • Orofaciodigital syndrome IV, 258860
Tags
No list No list
TMEM138
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
TMEM216
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
TMEM231
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
TMEM237
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
TMEM67
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • 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
No list No list
TRAF3IP1
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
TTC21B
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
TTC8
1 review
Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
Tags
No list No list
WDPCP
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085
Tags
No list No list
WDR19
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Cranioectodermal dysplasia 4 614378
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
Tags
No list No list
WDR34
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly 615633
  • severe asphyxiating thoracic dysplasia
Tags
No list No list
WDR35
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Cranioectodermal dysplasia 2 613610
  • Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Tags
No list No list
ZSWIM6
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Acromelic frontonasal dysostosis 603671
Tags
  • missense
  • mosaicism

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