Description
This gene panel is designed to cover the following limb disorders:

- 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

where limb disorder is the primary or secondary feature.

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

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

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (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

96 genes

94 reviewed, 75 green

List Gene Reviews Mode of inheritance Details
96 genes
Green Green List (high evidence)
ARHGAP31
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Viapath
  • London South East RGC GSTT
Phenotypes
  • Adams-Oliver syndrome 1, 100300
Green Green List (high evidence)
ARSE
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • CDPXL
  • Chondrodysplasia punctata, X-linked recessive, 302950
  • X-linked recessive chondrodysplasia punctata
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Green Green List (high evidence)
BHLHA9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South East RGC GSTT
  • Viapath
  • Expert list
  • Expert Review Green
Phenotypes
  • Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432
Green Green List (high evidence)
BMPR1B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London South East RGC GSTT
  • Viapath
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Acromesomelic dysplasia, Demirhan type, 609441
  • Brachydactyly, type A1, D 616849
  • Brachydactyly, type A2, 112600
Green Green List (high evidence)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Viapath
  • Emory Genetics Laboratory
  • London South East RGC GSTT
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Meckel syndrome 6, 612284
Green Green List (high evidence)
CEP290
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Viapath
  • London South East RGC GSTT
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 14, 615991
  • Joubert syndrome 5, 610188
  • Leber congenital amaurosis 10
  • Meckel syndrome 4,611134
  • Senior-Loken syndrome 6,610189
Green Green List (high evidence)
DLX5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South East RGC GSTT
  • Expert list
  • Expert Review Green
  • Viapath
Phenotypes
  • Split-hand/foot malformation 1 with sensorineural hearing loss, 220600
Green Green List (high evidence)
DOCK6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Viapath
  • London South East RGC GSTT
  • Expert list
Phenotypes
  • Adams-Oliver syndrome 2, 614219
Green Green List (high evidence)
DVL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Robinow syndrome, autosomal dominant 2, 616331
Green Green List (high evidence)
EOGT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Adams Oliver syndrome 4, 615297
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
  • London South East RGC GSTT
  • Expert Review Green
  • Viapath
Phenotypes
  • STAR syndrome, 300707
Tags
  • new-gene-name
Green Green List (high evidence)
FGF10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Viapath
  • London South East RGC GSTT
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • LADD syndrome 149730
Green Green List (high evidence)
FGF16
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London South East RGC GSTT
  • Viapath
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Metacarpal 4-5 fusion, 309630
Green Green List (high evidence)
FGFR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South East RGC GSTT
  • Viapath
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Encephalocraniocutaneous lipomatosis, somatic mosaism, 613001
  • Hartsfield syndrome, 615465
  • Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
  • Jackson-Weiss syndrome, 123150
  • Osteoglophonic dysplasia, 166250
  • Pfeiffer syndrome,101600
  • Trigonocephaly 1,190440
Green Green List (high evidence)
FGFR2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London South East RGC GSTT
  • Viapath
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
  • Apert syndrome 101200
  • Beare-Stevenson cutis gyrata syndrome 123790
  • Bent bone dysplasia syndrome 614592
  • Craniofacial-skeletal-dermatologic dysplasia 101600
  • Craniosynostosis, nonspecific Crouzon syndrome 123500
  • Gastric cancer, somatic 613659
  • Jackson-Weiss syndrome 123150
  • LADD syndrome 149730
  • Pfeiffer syndrome 101600
Green Green List (high evidence)
FGFR3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Achondroplasia 100800
  • CATSHL syndrome 610474
  • Crouzon syndrome with acanthosis nigricans 612247
  • Hypochondroplasia 146000
  • LADD syndrome 149730
  • Muenke syndrome 602849
  • SADDAN 616482
  • Thanatophoric dysplasia, type I 187600
  • Thanatophoric dysplasia, type II 187601
Green Green List (high evidence)
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
  • London South East RGC GSTT
  • Expert Review Green
  • Viapath
Phenotypes
  • Osteodysplasty Melnick Needles 309350 XLD
  • Otopalatodigital syndrome, type II 304120 XLD
  • Frontometaphyseal dysplasia 305620 XLR
  • Terminal osseous dysplasia 300244
Green Green List (high evidence)
GDF5
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Viapath
  • Emory Genetics Laboratory
  • London South East RGC GSTT
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acromesomelic dysplasia, Hunter-Thompson type 201250
  • Brachydactyly, type A1, C 615072
  • Brachydactyly, type A2 112600
  • Brachydactyly, type C 113100
  • Chondrodysplasia, Grebe type 200700
  • Du Pan syndrome 228900
  • Multiple synostoses syndrome 2 610017
  • Symphalangism, proximal, 1B 615298
  • {Osteoarthritis-5} 612400
Green Green List (high evidence)
GJA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • London South East RGC GSTT
  • 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
Green Green List (high evidence)
GLI3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Greig cephalopolysyndactyly syndrome 175700
  • Pallister-Hall syndrome 146510
  • Polydactyly, postaxial, types A1 and B 174200
  • Polydactyly, preaxial, type IV 174700
  • {Hypothalamic hamartomas, somatic} 241800
Green Green List (high evidence)
GNAS
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
  • Emory Genetics Laboratory
Phenotypes
  • ACTH-independent macronodular adrenal hyperplasia 219080 IC
  • McCune-Albright syndrome, somatic, mosaic 174800
  • Osseous heteroplasia, progressive 166350
  • Pseudohypoparathyroidism Ia 103580
  • Pseudohypoparathyroidism Ib 603233
  • Pseudohypoparathyroidism Ic 612462
  • Pseudopseudohypoparathyroidism 612463
Green Green List (high evidence)
HDAC4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430
Green Green List (high evidence)
HOXA13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
  • Expert list
Phenotypes
  • Guttmacher syndrome 176305
  • Hand-foot-genital syndrome 140000
Green Green List (high evidence)
HOXD13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert list
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Brachydactyly-syndactyly syndrome 610713
  • Brachydactyly, type D 113200
  • Brachydactyly, type E 113300
  • Syndactyly, type V 186300
  • Synpolydactyly 1 186000
Green Green List (high evidence)
IHH
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Viapath
  • London South East RGC GSTT
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acrocapitofemoral dysplasia 607778
  • Brachydactyly, type A1 112500
  • syndactyly and craniosynostosis
Tags
  • cnv
Green Green List (high evidence)
KIF7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Viapath
  • London South East RGC GSTT
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Al-Gazali-Bakalinova syndrome 607131
  • Hydrolethalus syndrome 2 614120
  • Acrocallosal syndrome 200990
  • Joubert syndrome 12 200990
Green Green List (high evidence)
LMBR1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Viapath
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Acheiropody 200500
  • Hypoplastic or aplastic tibia with polydactyly 188740
  • Laurin-Sandrow syndrome 135750
  • Polydactyly, preaxial type II 174500
  • Syndactyly, type IV 186200
  • Triphalangeal thumb, type I 174500
  • Triphalangeal thumb-polysyndactyly syndrome 174500
Green Green List (high evidence)
LMX1B
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Viapath
  • London South East RGC GSTT
Phenotypes
  • Nail-patella syndrome
Green Green List (high evidence)
MKS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Bardet-Biedl syndrome 13 615990
  • Meckel syndrome 1 249000
Green Green List (high evidence)
MYCN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Green Green List (high evidence)
NIPBL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Viapath
  • London South East RGC GSTT
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome 1 122470
Green Green List (high evidence)
NOG
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South East RGC GSTT
  • Viapath
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Brachydactyly, type B2 611377
  • Multiple synostoses syndrome 1 186500
  • Stapes ankylosis with broad thumb and toes 184460
  • Symphalangism, proximal, 1A 185800
  • Tarsal-carpal coalition syndrome 186570
Green Green List (high evidence)
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
  • Viapath
  • London South East RGC GSTT
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Joubert syndrome 10 300804
  • Orofaciodigital syndrome I 311200 XLD
  • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Green Green List (high evidence)
ORC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Meier-Gorlin syndrome 1
Green Green List (high evidence)
PCNT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Viapath
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
Green Green List (high evidence)
PITX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
  • Liebenberg syndrome 186550
Green Green List (high evidence)
PTHLH
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South East RGC GSTT
  • Viapath
  • Expert Review Green
Phenotypes
  • Brachydactyly, type E2
Green Green List (high evidence)
RAB23
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South East RGC GSTT
  • Viapath
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Carpenter syndrome 201000
Green Green List (high evidence)
RBM8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Viapath
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
Phenotypes
  • Thrombocytopenia-absent radius syndrome 274000
Green Green List (high evidence)
RBPJ
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • London South East RGC GSTT
  • Viapath
  • Expert Review Green
Phenotypes
  • Adams-Oliver syndrome 3, 614814
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
  • Rothmund-Thomson syndrome 268400
Green Green List (high evidence)
RNU4ATAC
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Viapath
  • London South East RGC GSTT
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I 210710
  • Roifman syndrome 616651
Green Green List (high evidence)
ROR2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London South East RGC GSTT
  • Viapath
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Brachydactyly, type B1 113000
  • Robinow syndrome, autosomal recessive 268310
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South East RGC GSTT
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Viapath
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 7 611560
  • Meckel syndrome 5 611561
Green Green List (high evidence)
SALL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Green Green List (high evidence)
SALL4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Okihiro (Duane-radial ray) syndrome 607323
  • IVIC syndrome 147750
Green Green List (high evidence)
SF3B4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Acrofacial dysostosis 1, Nager type 154400
Green Green List (high evidence)
SMC1A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Viapath
  • London South East RGC GSTT
Phenotypes
  • Cornelia de Lange syndrome 2 300590
Green Green List (high evidence)
SMC3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Cornelia de Lange syndrome 3 610759
Green Green List (high evidence)
TBX3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Viapath
  • London South East RGC GSTT
Phenotypes
  • Ulnar-mammary syndrome 181450
Green Green List (high evidence)
TBX4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ischiocoxopodopatellar syndrome
Green Green List (high evidence)
TBX5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • London South East RGC GSTT
  • Viapath
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holt-Oram syndrome 142900
Green Green List (high evidence)
TMEM67
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South East RGC GSTT
  • Expert list
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
  • Viapath
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 6 610688
  • Meckel syndrome 3 607361
  • {Bardet-Biedl syndrome 14, modifier of} 615991
Green Green List (high evidence)
TP63
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Viapath
  • London South East RGC GSTT
Phenotypes
  • ULT syndrome 103285
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292
  • Hay-Wells syndrome 106260
  • Limb-mammary syndrome 603543
  • Orofacial cleft 8 129400
  • Rapp-Hodgkin syndrome 129400
  • Split-hand/foot malformation 4 605289
Green Green List (high evidence)
TRAPPC2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Spondyloepiphyseal dysplasia tarda
Green Green List (high evidence)
TRPS1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Trichorhinophalangeal syndrome, type I 190350
  • Trichorhinophalangeal syndrome, type III 190351
Green Green List (high evidence)
WDR60
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Viapath
  • London South East RGC GSTT
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Green Green List (high evidence)
WNT10B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Viapath
  • London South East RGC GSTT
  • Expert list
Phenotypes
  • Split-hand/foot malformation 6 225300
Green Green List (high evidence)
WNT5A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South East RGC GSTT
  • Viapath
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Robinow syndrome, autosomal dominant 1 180700
Green Green List (high evidence)
WNT7A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Viapath
  • London South East RGC GSTT
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Fuhrmann syndrome 228930
  • Ulna and fibula, absence of, with severe limb deficiency 276820
Green Green List (high evidence)
CHSY1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
Green Green List (high evidence)
COL2A1
1 review
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
Green Green List (high evidence)
DLL4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South East RGC GSTT
  • Expert Review Green
  • Viapath
Phenotypes
  • Adams-Oliver syndrome 6 616589
Green Green List (high evidence)
DVL3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Viapath
  • London South East RGC GSTT
  • Expert Review Green
Phenotypes
  • Robinow syndrome, autosomal dominant 3 616894
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
Green Green List (high evidence)
LRP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cenani-Lenz syndactyly syndrome, 212780
  • CLSS
  • Cenani syndactyly
  • Cenani-Lenz syndactyly
  • Syndactyly type 7
Green Green List (high evidence)
NEK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly 263520
Green Green List (high evidence)
NOTCH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South East RGC GSTT
  • Viapath
  • Expert Review Green
Phenotypes
  • Adams-Oliver syndrome 5, 616028
  • Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)
  • AOS
  • Limb, scalp and skull defects
Green Green List (high evidence)
PDE3A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hypertension and brachydactyly syndrome 112410
Green Green List (high evidence)
PORCN
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 Green
  • Other
Phenotypes
  • focal dermal hypoplasia 305600
Green Green List (high evidence)
PRMT7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
  • Pseudohypoparathyroidism-like disorder
Green Green List (high evidence)
SFRP4
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Pyle disease, 265900
  • PYL
  • Metaphyseal dysplasia
Green Green List (high evidence)
SLC26A2
1 review
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
Green Green List (high evidence)
SMOC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Ophthalmo-acromelic syndrome
  • Microphthalmia with limb anomalies 206920
Green Green List (high evidence)
TRPV4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Digital arthropathy-brachydactyly, familial 606835
Amber Amber List (moderate evidence)
BMP2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Viapath
  • London South East RGC GSTT
Phenotypes
  • Brachydactyly, type A2 112600
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877
Tags
  • duplication
Amber Amber List (moderate evidence)
BTRC
1 review
Not set
Sources
  • Expert Review Amber
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Split-hand split-foot malformation 3
Tags
  • microduplication
  • cnv
Amber Amber List (moderate evidence)
DYNC2H1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly 613091
Amber Amber List (moderate evidence)
FBLN1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South East RGC GSTT
  • Viapath
Amber Amber List (moderate evidence)
FGD1
1 review
Not set
Sources
  • Viapath
  • London South East RGC GSTT
  • Expert Review Amber
Amber Amber List (moderate evidence)
FGF9
3 reviews
1 green 1 red
Not set
Sources
  • Viapath
  • Expert Review Amber
  • London South East RGC GSTT
Amber Amber List (moderate evidence)
IFT43
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Amber
Phenotypes
  • Short-rib thoracic dysplasia 18 with polydactyly 617866
Amber Amber List (moderate evidence)
KIAA0586
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly 616546
Amber Amber List (moderate evidence)
MIR17HG
4 reviews
1 green
Not set
Sources
  • London South East RGC GSTT
  • Expert Review Amber
  • Viapath
Tags
  • watchlist
  • deletions
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
DLX6
3 reviews
1 green 1 red
Not set
Sources
  • London South East RGC GSTT
  • Viapath
Tags
  • polygenic
Red Red List (low evidence)
DVL2
2 reviews
Not set
Sources
  • London South East RGC GSTT
  • Viapath
Red Red List (low evidence)
FMN1
3 reviews
1 green 1 red
Not set
Sources
  • Viapath
  • London South East RGC GSTT
Red Red List (low evidence)
GREM1
4 reviews
1 green 2 red
Unknown
Sources
  • Literature
Tags
  • structural-variant
Red Red List (low evidence)
IQCE
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Red
Phenotypes
  • Polydactyly, postaxial, type A7 617642
Red Red List (low evidence)
MIPOL1
2 reviews
1 red
Unknown
Sources
  • Other
  • Expert Review Red
Phenotypes
  • Mirror-image polydactyly of hands and feet
Red Red List (low evidence)
POLL
2 reviews
Unknown
Sources
  • Literature
  • Expert Review Red
Tags
  • cnv
Red Red List (low evidence)
SEM1
4 reviews
1 green 1 red
Not set
Sources
  • Viapath
  • London South East RGC GSTT
Tags
  • polygenic
Red Red List (low evidence)
SHH
5 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • preaxial polydactyly
  • holoprosencephaly
Tags
  • regulatory-region
Red Red List (low evidence)
SLC25A21
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • familial synpolydactyly of the hands and feet
Tags
  • deletions
Red Red List (low evidence)
SOX9
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • brachydactyly-anonychia
Tags
  • duplication
Red Red List (low evidence)
ZNF141
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • ?Polydactyly, postaxial, type A6 615226

0 STRs

0 reviewed, 0 green

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