The latest signed off version for the GMS is v7.0. The current version, shown here, may differ from the signed-off version.

Limb disorders (Version 7.17)

Level 2: Musculoskeletal

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Latest signed off version: v7.0 (30 Apr 2025)
Previously signed off versions: v6.2, v6.0, v5.0, v4.0, v3.0, v2.2

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.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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)

Panel Activity

24 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Andrew Wilkie (University of Oxford)

Group: GeCIP domain
Workplace: Research lab
Jenny Simmonds (Leeds Teaching Hospitals Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Ana Beleza (Bristol Regional Genetics Service)

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
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other

268 Entities

266 reviewed, 157 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 268 Entitiess
Green List (high evidence)	ARHGAP31	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	ARL6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 3 600151 Tags
Green List (high evidence)	ARSE	3 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 new-gene-name
Green List (high evidence)	ASXL1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Bohring-Opitz syndrome, OMIM:605039 Bohring-Opitz syndrome, MONDO:0011510 Tags
Green List (high evidence)	BBS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 1 OMIM:209900 Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green List (high evidence)	BBS10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet Biedl syndrome 10, 615987 Tags
Green List (high evidence)	BBS12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet Biedl syndrome 12, 615989 Tags
Green List (high evidence)	BBS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 2, 615981 Tags
Green List (high evidence)	BBS4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 4, 615982 Tags
Green List (high evidence)	BBS5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet Biedl syndrome 5, 615983 Tags
Green List (high evidence)	BBS7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 7, 615984 Tags
Green List (high evidence)	BBS9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet Biedl syndrome 9, 615986 Tags
Green List (high evidence)	BHLHA9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London South East RGC GSTT Viapath Victorian Clinical Genetics Services Phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 Polydactyly Tags
Green List (high evidence)	BMP2	5 reviews 2 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
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 List (high evidence)	BMPR1B	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Acromesomelic dysplasia, Demirhan type, OMIM:609441 Brachydactyly, type A1, D, OMIM:616849 Brachydactyly, type A2, OMIM:112600 Tags
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, OMIM:605724 Tags
Green List (high evidence)	BRIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group J, OMIM:609054 Radial ray abnormality Tags
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 List (high evidence)	CDX2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Multiple congenital anomalies Tags gene-checked
Green List (high evidence)	CENPF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stromme syndrome, OMIM:243605 Tags
Green List (high evidence)	CEP55	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes microcephaly, developmental delay and bilateral toe syndactyly Tags
Green List (high evidence)	CHSY1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Temtamy preaxial brachydactyly syndrome 605282 Tags
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 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 List (high evidence)	DDX59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome V 174300 Polydactyly Tags
Green 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 List (high evidence)	DLX5	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London South East RGC GSTT NHS GMS Viapath Phenotypes ?Split-hand/foot malformation 1 with sensorineural hearing loss, OMIM:220600 Split-hand/foot malformation 1, OMIM:183600 Tags
Green List (high evidence)	DOCK6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London South East RGC GSTT Radboud University Medical Center, Nijmegen Viapath Phenotypes Adams-Oliver syndrome 2, 614219 Tags
Green List (high evidence)	DVL1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Robinow syndrome, autosomal dominant 2, 616331 Tags
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 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 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 List (high evidence)	EOGT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London South East RGC GSTT UKGTN Viapath Phenotypes Adams Oliver syndrome 4, 615297 Tags
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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)	FBXW11	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome, MONDO:0030057 Tags
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 List (high evidence)	FGF10	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	FGF16	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Metacarpal 4-5 fusion, 309630 Tags
Green List (high evidence)	FGFR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	FGFR2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	FGFR3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	FIG4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Yunis Varon syndrome OMIM:216340 Yunis-Varon syndrome MONDO:0008995 Tags
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 1, OMIM:305620 Melnick-Needles syndrome, OMIM:309350 Otopalatodigital syndrome, type I, OMIM:311300 Otopalatodigital syndrome, type II, OMIM:304120 Terminal osseous dysplasia, OMIM:300244 Tags
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 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 List (high evidence)	FZD2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Omodysplasia 2, OMIM:164745 Robinow syndrome Tags
Green List (high evidence)	GDF5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	GJA1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400 Oculodentodigital dysplasia, OMIM:164200 Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 Syndactyly, type III, OMIM:186100 Tags
Green List (high evidence)	GLI1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polydactyly, postaxial, type A8, 618123 Polydactyly, preaxial I, 174400 Tags
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 List (high evidence)	GLI3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green 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, OMIM:175700 Pallister-Hall syndrome, OMIM:146510 Polydactyly, postaxial, types A1 and B, OMIM:174200 Polydactyly, preaxial, type IV, OMIM:174700 Tags
Green List (high evidence)	GNAS	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green London South East RGC GSTT NHS GMS Viapath Phenotypes Pseudohypoparathyroidism Ia, OMIM:103580 pseudohypoparathyroidism type 1A, MONDO:0007078 Pseudohypoparathyroidism Ib, OMIM:603233 pseudohypoparathyroidism type 1B, MONDO:0011301 Pseudohypoparathyroidism Ic, OMIM:612462 pseudohypoparathyroidism type 1C, MONDO:0012911 McCune-Albright syndrome, somatic, mosaic, OMIM:174800 panostotic fibrous dysplasia, MONDO:0043168 Osseous heteroplasia, progressive, OMIM:166350 ACTH-independent macronodular adrenal hyperplasia. OMIM:219080 ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735 Pseudopseudohypoparathyroidism, OMIM:612463 pseudopseudohypoparathyroidism, MONDO:0012912 Tags mosaicism
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 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 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 List (high evidence)	HEATR3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Anemia Thrombocytopenia Growth delay Short stature Abnormality of the skeletal system Abnormality of finger Abnormality of the thumb Intellectual disability Obesity Abnormality of the face Tags
Green List (high evidence)	HOXA13	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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 List (high evidence)	HOXD13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	IFT27	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 19, OMIM:615996 Polydactyly Tags
Green List (high evidence)	IHH	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Acrocapitofemoral dysplasia, OMIM:607778 Brachydactyly, type A1, OMIM:112500 Tags cnv
Green List (high evidence)	IQCE	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Polydactyly, postaxial, type A7 OMIM:617642 polydactyly, postaxial, type a7 MONDO:0060550 Tags
Green List (high evidence)	2q37.3 terminal region (includes HDAC4) Loss ISCA-37394-Loss Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination 600430 Tags
Green List (high evidence)	7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain ISCA-37467-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype 174500 Triphalangeal thumbpolysyndactyly syndrome syndactyly type IV with tibial hypoplasia Tags
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 List (high evidence)	KCNN3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Zimmermann-Laband syndrome 3, OMIM:618658 Zimmermann-laband syndrome 3, MONDO:0032854 Tags
Green List (high evidence)	KIAA0825	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polydactyly, postaxial, type A10 OMIM:618498 polydactyly, postaxial, type a10 MONDO:0032785 Tags
Green List (high evidence)	KYNU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661 hand hyperphalangism Tags
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 List (high evidence)	LMBR1	6 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	LMX1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Nail-patella syndrome 161200 Tags
Green List (high evidence)	LRP4	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Cenani-Lenz syndactyly syndrome, OMIM:212780 CLSS Cenani syndactyly Cenani-Lenz syndactyly Syndactyly type 7 Polydactyly Tags
Green List (high evidence)	LTBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIE, OMIM:619451 Brachydactyly, HP:0001156 Clinodactyly, HP:0030084 Syndactyly, HP:0001159 Tags
Green List (high evidence)	LZTFL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 17 615994 Polydactyly Tags
Green List (high evidence)	MAPKAPK5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurocardiofaciodigital syndrome, OMIM:619869 Tags
Green List (high evidence)	MECOM	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 Tags
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 List (high evidence)	MKKS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 6, 605231 McKusick-Kaufman syndrome, 236700 Tags
Green List (high evidence)	MKS1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 Joubert syndrome 28, 617121 Polydactyly Tags
Green List (high evidence)	MYCN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 Tags
Green List (high evidence)	NIPBL	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	NOG	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 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 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 List (high evidence)	PAX3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Waardenburg syndrome, type 3, 148820 Tags
Green List (high evidence)	PCNT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 Tags
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 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 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, OMIM:603387 Tags
Green List (high evidence)	PITX1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 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 List (high evidence)	PRKACA	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Cardioacrofacial dysplasia 1, OMIM:619142 Tags
Green List (high evidence)	PRKACB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 2, OMIM:619143 Tags
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 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 List (high evidence)	RAB23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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 List (high evidence)	RAD51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Fanconi anemia, complementation group R, OMIM:617244 Tags
Green List (high evidence)	RBM8A	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Thrombocytopenia-absent radius syndrome, 274000 Tags
Green List (high evidence)	RBPJ	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London South East RGC GSTT Radboud University Medical Center, Nijmegen Viapath Phenotypes Adams-Oliver syndrome 3, 614814 Tags
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, OMIM:218600 RAPADILINO syndrome, OMIM:266280 Rothmund-Thomson syndrome, type 2, OMIM:268400 Tags
Green List (high evidence)	RNU4ATAC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London South East RGC GSTT Radboud University Medical Center, Nijmegen Viapath Phenotypes Lowry-Wood syndrome, OMIM:226960 Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 Roifman syndrome, OMIM:616651 Tags locus-type-rna-small-nuclear
Green List (high evidence)	ROR2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Brachydactyly, type B1, OMIM:113000 (AD) Robinow syndrome, autosomal recessive, OMIM:268310 (AR) Tags
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 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 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 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 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 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 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 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 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 List (high evidence)	SALL1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	SALL4	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	SCUBE3	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 Tags
Green List (high evidence)	SF3B4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green 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 List (high evidence)	SFRP4	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pyle disease, 265900 PYL Metaphyseal dysplasia Tags
Green List (high evidence)	SHOX	5 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Langer mesomelic dysplasia, OMIM:249700 (PR) Leri-Weill dyschondrosteosis, OMIM:127300 (PD) Short stature, idiopathic familial, OMIM:300582 Dorsolateral bowed, short radii Bowing and curving of radius Radioulnar shortening Tags Pseudoautosomal region 1
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 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 List (high evidence)	SMAD6	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes radioulnar synostosis Tags
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 list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT Radboud University Medical Center, Nijmegen Viapath Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370 Tags
Green List (high evidence)	SMC3	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	SMO	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Curry-Jones syndrome, somatic mosaic, OMIM:601500 postaxial polydactyly MONDO:0020927 Microcephaly HP:0000252 congenital heart disease MONDO:0005453 Hirschsprung disease MONDO:0018309 Tags mosaicism somatic
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 List (high evidence)	TBX3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	TBX4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 Tags
Green List (high evidence)	TBX5	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 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 List (high evidence)	TGDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Catel-Manzke syndrome 616145 Tags
Green List (high evidence)	TMEM67	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT UKGTN Viapath Victorian Clinical Genetics Services Phenotypes COACH syndrome 216360 Joubert syndrome 6 610688 Meckel syndrome 3 607361 {Bardet-Biedl syndrome 14, modifier of} 615991 Polydactyly Tags
Green List (high evidence)	TP63	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South East RGC GSTT Radboud University Medical Center, Nijmegen UKGTN Viapath Phenotypes ADULT syndrome, OMIM:103285 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292 Limb-mammary syndrome, OMIM:603543 Split-hand/foot malformation 4, OMIM:605289 Tags
Green List (high evidence)	TRPS1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	TRPV4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Digital arthropathy-brachydactyly, familial 606835 Tags
Green List (high evidence)	TTC8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 8, 615985 Tags
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 List (high evidence)	TXNDC15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Meckel syndrome 14, OMIM:619879 Tags gene-checked
Green List (high evidence)	UBA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes split hand-foot malformation MONDO:0016576 aplasia cutis congenita (disease) MONDO:0007145 ectrodactyly Tags
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 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 List (high evidence)	WDPCP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085 ?Bardet-Biedl syndrome 15, 615992 Tags
Green List (high evidence)	WDR60	4 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 new-gene-name
Green List (high evidence)	WNT10B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London South East RGC GSTT Radboud University Medical Center, Nijmegen Viapath Phenotypes Split-hand/foot malformation 6, OMIM:225300 Tags
Green List (high evidence)	WNT5A	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 List (high evidence)	WNT7A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 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 List (high evidence)	ZSWIM6	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acromelic frontonasal dysostosis 603671 Tags missense mosaicism
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 List (moderate evidence)	BTRC	2 reviews	Not set	Sources Expert Review Amber London South East RGC GSTT Viapath Phenotypes Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560 split hand-foot malformation 3, MONDO:0009525 Tags cnv microduplication
Amber List (moderate evidence)	C16orf62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber List (moderate evidence)	CYP26B1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 Tags
Amber List (moderate evidence)	EFNB1	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 list Expert Review Amber Phenotypes Craniofrontonasal dysplasia, OMIM:304110 Tags
Amber List (moderate evidence)	EIF4A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Robin sequence with cleft mandible and limb anomalies, 268305 Tags
Amber List (moderate evidence)	EPHA4	2 reviews	Unknown	Sources Expert list Expert Review Amber Tags
Amber List (moderate evidence)	FAAP100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Fanconi anemia, complementation group X, OMIM:621258 Fanconi anemia, MONDO:0019391 Tags Q1_26_promote_green
Amber List (moderate evidence)	FAM92A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes postaxial polydactyly type A9 Tags
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 List (moderate evidence)	FBXW4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560 split hand-foot malformation 3, MONDO:0009525 Tags
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 List (moderate evidence)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 Tags Q3_25_promote_green
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 List (moderate evidence)	HDAC4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber 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
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 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 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 List (moderate evidence)	NCAPG2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Khan-Khan-Katsanis syndrome, 618460 Tags
Amber List (moderate evidence)	NXN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Robinow syndrome, autosomal recessive 2, 618529 Tags watchlist
Amber List (moderate evidence)	ORC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meier-Gorlin syndrome 1, OMIM:224690 Tags
Amber List (moderate evidence)	PDE6D	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes ?Joubert syndrome 22 615665 Polydactyly Tags
Amber List (moderate evidence)	POLR1A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Acrofacial dysostosis, Cincinnati type, 616462 Tags
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 List (moderate evidence)	RPL26	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes ?Diamond-Blackfan anemia 11, OMIM:614900 Tags Q2_25_ promote_green
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 List (moderate evidence)	STKLD1	2 reviews	Unknown	Sources Expert list Expert Review Amber Tags
Amber List (moderate evidence)	SUFU	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Joubert syndrome 32, OMIM:617757 Tags watchlist
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 List (moderate evidence)	THPO	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Thrombocythemia 1, 187950 Tags
Amber List (moderate evidence)	TRAF7	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 Developmental Delay, Congenital Anomalies, and Dysmorphic Features Tags missense
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 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 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 List (low evidence)	ALX3	1 review	Not set	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Polydactyly Tags
Red List (low evidence)	ARMC8	1 review	Not set	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Polydactyly Tags
Red List (low evidence)	B9D1	1 review	Not set	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Meckel syndrome 9, OMIM:614209 Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Joubert syndrome 27, MONDO:0014927 Tags
Red List (low evidence)	BBIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes ?Bardet-Biedl syndrome 18, 615995 Tags
Red List (low evidence)	C8orf37	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Bardet-Biedl syndrome 21, 617406 Tags new-gene-name
Red List (low evidence)	CCDC28B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red List (low evidence)	CD96	1 review	Not set	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Polydactyly C syndrome 211750 Tags
Red List (low evidence)	CEP290	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red 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
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 List (low evidence)	DVL2	3 reviews	Not set	Sources Expert Review Red London South East RGC GSTT Viapath Tags gene-checked
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 List (low evidence)	FMN1	4 reviews 1 green 2 red	Not set	Sources Expert Review Red London South East RGC GSTT Viapath Tags
Red List (low evidence)	FSTL5	1 review 1 red	Unknown	Sources Literature Phenotypes isolated club-foot iTEV Talipes equinovarus Tags
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 List (low evidence)	GZF1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Joint laxity, short stature, and myopia, 617662 Larsen syndrome Tags
Red List (low evidence)	HMGB1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Mirror image foot polydactyly Tags gene-checked
Red List (low evidence)	HOXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MONDO:0024558 Tags
Red List (low evidence)	IFT74	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes ?Bardet-Biedl syndrome 20 617119 Tags
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 List (low evidence)	MIPOL1	3 reviews 1 red	Unknown	Sources Expert Review Red Other Phenotypes Mirror-image polydactyly of hands and feet Tags
Red List (low evidence)	NTN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes polydactyly, MONDO:0021003 Tags
Red List (low evidence)	PNPLA6	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Polydactyly Tags
Red List (low evidence)	POLL	2 reviews	Unknown	Sources Expert Review Red Literature Tags cnv
Red List (low evidence)	PROM1	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Polydactyly Tags
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 List (low evidence)	RPL17	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Diamond-Blackfan anemia, MONDO:0015253 Tags
Red List (low evidence)	RPS28	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Radial Ray abnormality Tags
Red List (low evidence)	RPS29	4 reviews 1 green	Not set	Sources Victorian Clinical Genetics Services Phenotypes Radial Ray abnormality Tags
Red List (low evidence)	SC5D	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Polydactyly Tags
Red List (low evidence)	SDCCAG8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Senior-Loken syndrome 7, 613615 Bardet-Biedl syndrome 16, 615993 Tags
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 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 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 List (low evidence)	SOX9	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Brachydactyly-anonychia brachydactyly-anonychia Tags gene-duplication
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 List (low evidence)	TRIM32	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 11, 615988 Polydactyly Tags
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	AHI1	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Joubert syndrome 3 608629 Tags curated_removed
No list	ALMS1	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	B9D2	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags curated_removed
No list	C2CD3	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	C5orf42	2 reviews	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed new-gene-name
No list	CC2D2A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed 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 curated_removed
No list	CEP120	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	CEP164	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	CEP41	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	COL5A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Phenotypes EDS Tags curated_removed
No list	CSPP1	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
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, OMIM:613091 Tags curated_removed
No list	DYNC2LI1	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	EVC	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	EVC2	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	HYLS1	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	ICK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags curated_removed new-gene-name
No list	IFT140	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	IFT172	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
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, OMIM:617102 Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 Tags curated_removed
No list	IFT80	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	INPP5E	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
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 curated_removed
No list	KIF7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed 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 curated_removed
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 curated_removed
No list	NPHP3	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
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 list Expert Review Removed 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 curated_removed
No list	RPGRIP1L	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed 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 curated_removed
No list	TCTEX1D2	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Polydactyly Brachydactyly Tags curated_removed new-gene-name
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 curated_removed
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 curated_removed
No list	TMEM138	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	TMEM216	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	TMEM231	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	TMEM237	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	TRAF3IP1	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list	TTC21B	1 review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
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 curated_removed
No list	WDR34	3 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 curated_removed new-gene-name
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 curated_removed

Major version comments

2025-04-30 16:24 Eleanor Williams (Genomics England Curator) promoted panel to 7.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (7.0) following this.

2024-08-07 16:02 Eleanor Williams (Genomics England Curator) promoted panel to 6.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (6.0) following this.

2024-05-01 12:39 Arina Puzriakova (Genomics England Curator) promoted panel to 5.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (5.0) following this.

2023-03-22 15:21 Arina Puzriakova (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 13:30 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-12-10 11:22 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.141) was signed off under NHS Genomic Medicine Service governance on 10th Dec 2019. The panel was promoted to the next major version (version 2.0) as a result of this.

2018-12-11 11:02 Eleanor Williams (Genomics England Curator) promoted panel to 1.0
Panel reviews were assessed, and panel was revised according to reviews and further curation

Limb disorders (Version 7.17)

24 reviewers

268 Entities

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