The latest signed off version for the GMS is v8.0. The current version, shown here, may differ from the signed-off version.

Skeletal dysplasia (Version 8.34)

Level 2: Musculoskeletal

Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia, R104
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Latest signed off version: v8.0 (30 Apr 2025)
Previously signed off versions: v7.0, v6.0, v5.0, v4.0, v3.0, v2.2
Previous code: 5693952f22c1fc251660fb1e

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R104 Skeletal dysplasia' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R104 Skeletal dysplasia'.

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

Panel Activity

36 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
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Group: GeCIP domain
Workplace: NHS clinical service
Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Jenny Simmonds (Leeds Teaching Hospitals Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Ana Beleza (Bristol Regional Genetics Service)

Group: Other NHS organisation
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Michael Oldridge (NHS)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
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
Alistair Pagnamenta (University of Oxford)

Group: GeCIP domain
Workplace: Research lab
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Duncan Baker (Sheffield Genetics)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Ronnie Wright (North West GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Aleš Maver (Clinical Institute of Medical Genetics)

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

Group: Other
Workplace: Other
Julie Evans (South West Genomic Laboratory Hub)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Rhoda Akilapa (North West Thames Regional Genetics Service)

Group: Other NHS organisation
Workplace: NHS clinical service
Mehdi Montazer (Mashhad University of Medical Sciences)

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

Group: Other
Workplace: Other
Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

Group: Other
Workplace: Other diagnostic lab
Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Conor Pallatt (West Midlands Regional Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Adrienne Flanagan (Royal National Orthopaedic Hospital)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab
Cassandra Smith (Genomics England)

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

Group: Other
Workplace: Other

643 Entities

553 reviewed, 442 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 643 Entitiess
Green List (high evidence)	ABCC9	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome) Hypertrichotic osteochondrodysplasia 239850 Tags
Green List (high evidence)	ACAN	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800 Spondyloepimetaphyseal dysplasia, aggrecan type 61283 Spondyloepiphyseal dysplasia, Kimberley type 608361 Tags
Green List (high evidence)	ACP5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondyloenchondrodysplasia with immune dysregulation 607944 Tags
Green List (high evidence)	ACVR1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Fibrodysplasia ossificans progressiva 135100 Tags
Green List (high evidence)	ADAMTS10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Weill-Marchesani syndrome 1, recessive, 277600 Tags
Green List (high evidence)	ADAMTS17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Weill-Marchesani syndrome type 4 Tags
Green List (high evidence)	ADAMTSL2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Geleophysic dysplasia 1 231050 Tags
Green List (high evidence)	AFF3	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes KINSSHIP syndrome, OMIM:619297 Tags
Green List (high evidence)	AGA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) Tags
Green List (high evidence)	AGPS	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121 Rhizomelic chondrodysplasia punctata, type 3 600121 Tags
Green List (high evidence)	ALG12	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Ig 607143 Tags
Green List (high evidence)	ALG3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Id 601110 Tags
Green List (high evidence)	ALG9	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Gillessen-Kaesbach-Nishimura syndrome 263210 Congenital disorder of glycosylation, type Il 608776 Gillessen-Kaesbach-Nishimura syndrome 263210 Tags
Green List (high evidence)	ALPL	4 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes hypophosphatasia skeletal dysplasias skeletal dysplasias Osteogenesis Imperfecta and Decreased Bone Density Tags
Green List (high evidence)	ALX1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Frontonasal dysplasia type 3 613456 Frontonasal dysplasia 3 613456 Tags
Green List (high evidence)	ALX3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Frontonasal dysplasia 1 136760 (frontorhiny) Frontonasal dysplasia 1 136760 Tags
Green List (high evidence)	ALX4	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Frontonasal dysplasia 2 613451 Tags
Green List (high evidence)	AMER1	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 Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Osteopathia striata with cranial sclerosis 300373 Osteopathia striata with cranial sclerosis 300373 Tags
Green List (high evidence)	ANAPC1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 Tags
Green List (high evidence)	ANKH	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Chondrocalcinosis 2 118600 Craniometaphyseal dysplasia 123000 Tags
Green List (high evidence)	ANKRD11	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes KBG syndrome 148050 Tags
Green List (high evidence)	ANO5	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Gnathodiaphyseal dysplasia OMIM:166260 gnathodiaphyseal dysplasia MONDO:0008151 Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias skeletal dysplasias Disproportionate Short Stature Tags
Green List (high evidence)	ANTXR2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyaline fibromatosis syndrome 228600 Tags
Green List (high evidence)	ARCN1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164 Tags
Green List (high evidence)	ARHGAP31	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Adams-Oliver syndrome 1 100300 Tags
Green List (high evidence)	ARL6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Polydactyly Bardet-Biedl syndrome 3 600151 Tags
Green List (high evidence)	ARSB	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 Tags
Green List (high evidence)	ARSE	5 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes CDPXL Chondrodysplasia punctata, X-linked recessive, 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED X-linked recessive chondrodysplasia punctata Tags new-gene-name
Green List (high evidence)	ARSK	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Mucopolysaccharidosis, type X, OMIM:619698 mucopolysaccharidosis, type 10, MONDO:0030524 Tags
Green List (high evidence)	ASXL1	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Bohring-Opitz syndrome, OMIM:605039 Bohring-Opitz syndrome, MONDO:0011510 Tags
Green List (high evidence)	ASXL2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Shashi-Pena syndrome 617190 Shashi-Pena syndrome 617190 Tags
Green List (high evidence)	ATP6V0A2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIA 219200 Cutis laxa, autosomal recessive, type IIA 219200 Tags
Green List (high evidence)	ATP7A	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinal muscular atrophy, distal, 300489 Menkes disease 309400 Occipital horn syndrome 304150 Tags
Green List (high evidence)	AXIN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, MONDO:0018681 Tags
Green List (high evidence)	B3GALT6	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 Tags
Green List (high evidence)	B3GAT3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 Larsen alike phenotype (skd incl) Tags
Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	B4GALT7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070 Tags
Green List (high evidence)	BBS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green 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 Emory Genetics Laboratory Expert Review Green Phenotypes Polydactyly Bardet Biedl syndrome 10, 615987 Tags
Green List (high evidence)	BBS12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Polydactyly Bardet Biedl syndrome 12, 615989 Tags
Green List (high evidence)	BBS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Polydactyly Bardet-Biedl syndrome 2, 615981 Tags
Green List (high evidence)	BBS4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Polydactyly Bardet-Biedl syndrome 4, 615982 Tags
Green List (high evidence)	BBS5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Polydactyly Bardet Biedl syndrome 5, 615983 Tags
Green List (high evidence)	BBS7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Polydactyly Bardet-Biedl syndrome 7, 615984 Tags
Green List (high evidence)	BBS9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Polydactyly Bardet Biedl syndrome 9, 615986 Tags
Green List (high evidence)	BGN	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia, X-linked, OMIM:300106 Tags
Green List (high evidence)	BHLHA9	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432 Tags
Green List (high evidence)	BMP1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Osteogenesis imperfecta, type XIII, 614856 Tags
Green List (high evidence)	BMP2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877. Brachydactyly, type A2 112600 {HFE hemochromatosis, modifier of} 235200 Tags cnv
Green List (high evidence)	BMPER	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Diaphanospondylodysostosis 608022 Tags
Green List (high evidence)	BMPR1B	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Acromesomelic dysplasia, Demirhan type, OMIM:609441 Brachydactyly, type A1, D, OMIM:616849 Brachydactyly, type A2, OMIM:112600 Tags
Green List (high evidence)	C21orf2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature NHS GMS Phenotypes Spondylometaphyseal dysplasia, axial 602271 Axial Spondylometaphyseal Dysplasia 602271 Tags new-gene-name
Green List (high evidence)	C2CD3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS UKGTN Phenotypes Orofaciodigital syndrome XIV 615948 Tags
Green List (high evidence)	CA2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 Tags
Green List (high evidence)	CANT1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Phenotypes Desbuquois dysplasia 1 251450 multiple epiphyseal dysplasia type 7, 617719. Tags
Green List (high evidence)	CASR	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Hypocalcemia, autosomal dominant 601198 Hypocalciuric hypercalcemia, type I 145980 Hyperparathyroidism, neonatal 239200 Hypocalcemia, autosomal dominant, with Bartter syndrome 601198 Tags
Green List (high evidence)	CBFB	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Cleidocranial dysplasia 2, OMIM:620099 cleidocranial dysplasia 2, MONDO:0859307 Tags
Green List (high evidence)	CC2D2A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 6 612284 Tags
Green List (high evidence)	CCDC8	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-M syndrome 3, 614205 Tags
Green List (high evidence)	CDC45	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Craniosynostosis (Wilkie) (from Ana Beleza) Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) Tags
Green List (high evidence)	CDH3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 Tags
Green List (high evidence)	CDKN1C	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes IMAGE syndrome 614732 Tags
Green List (high evidence)	CDT1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meier-Gorlin syndrome 4, OMIM:613804 Tags
Green List (high evidence)	CEP120	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS UKGTN Phenotypes Joubert syndrome 213300 Short-rib thoracic dysplasia 13 with or without polydactyly 616300 Tags
Green List (high evidence)	CEP290	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 4 611134 Senior-Loken syndrome 6 610189 Joubert syndrome 5 610188 Bardet-Biedl syndrome 14 615991 Leber congenital amaurosis 10 Tags
Green List (high evidence)	CHST14	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 Tags
Green List (high evidence)	CHST3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 Tags
Green List (high evidence)	CHSY1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Temtamy preaxial brachydactyly syndrome 605282 Tags
Green List (high evidence)	CLCN5	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 Dent disease 300009 Nephrolithiasis, type I 310468 Hypophosphatemic rickets 300554 Tags
Green List (high evidence)	CLCN7	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal recessive 4, OMIM:611490 Osteopetrosis, autosomal dominant 2, OMIM:166600 Tags
Green List (high evidence)	COG1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type IIg 611209 Tags
Green List (high evidence)	COG4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Saul-Wilson syndrome, OMIM:618150 microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 Tags
Green List (high evidence)	COL10A1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 Tags
Green List (high evidence)	COL11A1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Stickler syndrome, type II, OMIM:604841 Marshall syndrome, OMIM:154780 Fibrochondrogenesis 1, OMIM:228520 Tags
Green List (high evidence)	COL11A2	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Stickler syndrome, type III 184840 Otospondylomegaepiphyseal dysplasia 215150 Fibrochondrogenesis 2 614524? Fibrochondrogenesis 2 614524 Weissenbacher-Zweymuller syndrome 277610 Tags
Green List (high evidence)	COL1A1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Osteogenesis imperfecta, type I 166200 Caffey disease 114000 Osteogenesis imperfecta, type III 259420 Osteogenesis imperfecta, type II 166210 Ehlers-Danlos syndrome, type VIIA 130060 Ehlers-Danlos syndrome, classic 130000 Osteogenesis imperfecta, type IV 166220 Tags
Green List (high evidence)	COL1A2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ehlers-Danlos syndrome, cardiac valvular form, OMIM:225320 Ehlers-Danlos syndrome, type VIIB, OMIM:130060 Osteogenesis imperfecta, type II, OMIM:166210 Osteogenesis imperfecta, type III, OMIM:259420 Osteogenesis imperfecta, type IV, OMIM:166220 Tags
Green List (high evidence)	COL27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Steel syndrome, OMIM:615155 Tags
Green List (high evidence)	COL2A1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness 132450 Spondyloepiphyseal dysplasia, Stanescu type 616583 Stickler sydrome, type I, nonsyndromic ocular 609508 Achondrogenesis, type II or hypochondrogenesis 200610 Kniest dysplasia 156550 Legg-Calve-Perthes disease 150600 Otospondylomegaepiphyseal dysplasia 215150 Stickler syndrome, type I 108300 SMED Strudwick type 184250 Spondyloperipheral dysplasia 271700 Platyspondylic skeletal dysplasia, Torrance type 151210 Czech dysplasia 609162 SED congenita 183900 Osteoarthritis with mild chondrodysplasia 604864 Avascular necrosis of the femoral head 608805 Tags
Green List (high evidence)	COL9A1	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Stickler syndrome, type IV, OMIM:614134 Epiphyseal dysplasia, multiple, 6, OMIM:614135 Tags
Green List (high evidence)	COL9A2	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Stickler syndrome, type V, OMIM:614284 Epiphyseal dysplasia, multiple, 2, OMIM:600204 Tags
Green List (high evidence)	COL9A3	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 Tags
Green List (high evidence)	COLEC11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes 3MC syndrome 2 265050 Tags
Green List (high evidence)	COMP	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes Epiphyseal dysplasia, multiple, 1, OMIM:132400 Pseudoachondroplasia, OMIM:177170 Tags nucleotide-repeat-expansion
Green List (high evidence)	COPB2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes juvenile osteoporosis Osteopenia Osteoporosis recurrent fractures Tags
Green List (high evidence)	CREB3L1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Osteogenesis imperfecta, type XVI 616229 Tags
Green List (high evidence)	CREBBP	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Rubinstein-Taybi syndrome 180849 Rubinstein-Taybi syndrome 180849 Tags
Green List (high evidence)	CRTAP	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Osteogenesis imperfecta, type VII 610682 Tags
Green List (high evidence)	CSGALNACT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Desbuquois dysplasia with mild joint laxity non-proportionate short stature Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 Tags
Green List (high evidence)	CSPP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Joubert syndrome 21 615636 ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome 21 615636 ORPHA:475 Joubert syndrome ORPHA:564 Meckel syndrome ORPHA:475 Joubert syndrome ORPHA:564 Meckel syndrome Tags
Green List (high evidence)	CTSA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Galactosialidosis 256540 Tags
Green List (high evidence)	CTSC	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Haim-Munk syndrome 245010, Haim-Munk syndrome 245010 Tags
Green List (high evidence)	CTSK	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pycnodysostosis 265800 Tags
Green List (high evidence)	CUL7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-M syndrome 1 273750 Tags
Green List (high evidence)	CYP27B1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Vitamin D-dependent rickets, type I 264700 Tags
Green List (high evidence)	CYP2R1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Rickets due to defect in vitamin D 25-hydroxylation, 600081 Tags
Green List (high evidence)	DCC	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 Tags
Green List (high evidence)	DDR2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported Spondylometaepiphyseal dysplasia, short limb-hand type 271665 Warburg-Cinotti syndrome, OMIM: 618175 Tags Q1_25_ MOI Q1_25_ NHS_review
Green List (high evidence)	DDRGK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557 Tags
Green List (high evidence)	DHCR24	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Desmosterolosis 602398 Tags
Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Smith-Lemli-Opitz syndrome 270400 Tags
Green List (high evidence)	DHODH	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Miller syndrome (postaxial acrofacial dysostosis) 263750 Tags
Green List (high evidence)	DIS3L2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Perlman syndrome 267000 Tags
Green List (high evidence)	DLL3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 1, autosomal recessive 277300 Tags
Green List (high evidence)	DLL4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes Adams-Oliver syndrome 6, 616589 Tags
Green List (high evidence)	DLX3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Amelogenesis imperfecta, type IV 104510 Trichodontoosseous syndrome 190320 Tags
Green List (high evidence)	DLX5	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes ?Split-hand/foot malformation 1 with sensorineural hearing loss, OMIM:220600 Split-hand/foot malformation 1, OMIM:183600 Tags
Green List (high evidence)	DMP1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Multiple synostoses syndrome 2, 610017 Chondrodysplasia, Grebe type, 200700 Brachydactyly, type C, 113100 Hypophosphatemic rickets, AR, 241520 Brachydactyly, type A1, C, 615072 Brachydactyly, type A2, 112600 Acromesomelic dysplasia, Hunter-Thompson type, 201250 {Osteoarthritis-5}, 612400 Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1) skeletal dysplasias Osteogenesis Imperfecta and Decreased Bone Density Du Pan syndrome, 228900 Symphalangism, proximal, 1B, 615298 Hypophosphatemic rickets, AR, 241520 Tags
Green List (high evidence)	DNMT3A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Tatton-Brown-Rahman syndrome 615879 Tags
Green List (high evidence)	DOCK6	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Adams-Oliver syndrome 2 614219 Adams-Oliver syndrome 2 614219 Tags
Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ij 608093 Myasthenic syndrome, congenital, 13, with tubular aggregates 614750 UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) Tags
Green List (high evidence)	DPM1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 Tags
Green List (high evidence)	DVL1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Robinow syndrome, autosomal dominant 2 616331 Robinow syndrome, autosomal dominant 2 616331 Tags
Green List (high evidence)	DVL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes autosomal dominant Robinow sydrome Robinow syndrome, MONDO:0019978 Tags gene-checked
Green List (high evidence)	DVL3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes Robinow syndrome, autosomal dominant 3, 616894 Tags
Green List (high evidence)	DYM	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Dyggve-Melchior-Clausen disease 223800 Smith-McCort dysplasia 607326 Tags
Green List (high evidence)	DYNC2H1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Green List (high evidence)	DYNC2LI1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes SRTD15 #617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY SRTD15 #617088 Tags
Green List (high evidence)	EBP	3 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 Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes X-linked dominant chondrodysplasia punctata CDPXLD MEND syndrome Chondrodysplasia punctata, X-linked dominant, 302960 MEND syndrome-300960 XLR. Tags
Green List (high evidence)	EED	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Cohen-Gibson syndrome 617561 Cohen-Gibson syndrome 617561 Tags
Green List (high evidence)	EFTUD2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 Tags
Green List (high evidence)	EIF2AK3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Wolcott-Rallison syndrome 226980 Wolcott-Rallison syndrome 226980 Tags
Green List (high evidence)	ENPP1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypophosphatemic rickets, autosomal recessive, 2 613312 Arterial calcification, generalized, of infancy, 1 208000 Cole disease 615522 Tags
Green List (high evidence)	EOGT	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS UKGTN Phenotypes Adams Oliver syndrome 4 Tags
Green List (high evidence)	ERF	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Chitayat syndrome - 617180 Craniosynostosis 4 600775 Tags
Green List (high evidence)	ERI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes spondyloepimetaphyseal dysplasia, MONDO:0100510 Tags
Green List (high evidence)	ESCO2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes SC phocomelia syndrome 269000 Roberts syndrome 268300 Tags
Green List (high evidence)	EVC	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ellis-van Creveld syndrome, 225500 ECV1 Ellis-van Creveld Syndrome Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530 Tags
Green List (high evidence)	EVC2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530 Tags Q3_25_MOI
Green List (high evidence)	EXOC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395 Tags
Green List (high evidence)	EXT1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes trichorhinophalangeal syndrome type 2 -150230 Exostoses, multiple, type 1 133700 Exostoses, multiple, type 13370 Tags
Green List (high evidence)	EXT2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Exostoses, multiple, type 2, OMIM:133701 Tags watchlist_moi
Green List (high evidence)	EXTL3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425 Tags
Green List (high evidence)	EZH2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Weaver syndrome Tags
Green List (high evidence)	FAM111A	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Gracile bone dysplasia 602361 Kenny-Caffey syndrome, type 2 127000 Tags
Green List (high evidence)	FAM20C	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Raine syndrome 259775 Tags
Green List (high evidence)	FAM46A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Osteogenesis imperfecta, type XVIII, OMIM:617952 Tags new-gene-name
Green List (high evidence)	FAM58A	5 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 Expert Review Green NHS GMS Phenotypes STAR syndrome 300707 STAR syndrome 300707 Tags new-gene-name
Green List (high evidence)	FBN1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Geleophysic dysplasia 2 614185 Stiff skin syndrome 184900 Marfan syndrome 154700 Acromicric dysplasia 102370 Weill-Marchesani syndrome 2, dominant 608328 Tags
Green List (high evidence)	FBN2	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Contractural arachnodactyly, congenital OMIM:121050 congenital contractural arachnodactyly MONDO:0007363 Tags
Green List (high evidence)	FBXW11	5 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)	FERMT3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leukocyte adhesion deficiency, type III 612840 (Moderate osteopetrosis) Kilic SS et al. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. J Clin Immunol. 2009 Jan, 29(1):117-22. Tags
Green List (high evidence)	FGF10	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes LADD syndrome 149730 Tags
Green List (high evidence)	FGF16	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Metacarpal 4-5 fusion 309630 Metacarpal 4-5 fusion 309630 Tags
Green List (high evidence)	FGF23	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypophosphatemic rickets, autosomal dominant 193100 Osteomalacia, tumor-induced Tumoral calcinosis, hyperphosphatemic, familial 211900 Tags
Green List (high evidence)	FGF9	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Multiple synostoses syndrome 3, OMIM:612961 multiple synostoses syndrome 3, MONDO:0013064 Tags
Green List (high evidence)	FGFR1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia 147950 Encephalocraniocutaneous lipomatosis, somatic mosaism 613001 Pfeiffer syndrome 101600 Trigonocephaly 1 190440 Hartsfield syndrome 615465 Jackson-Weiss syndrome 123150 Osteoglophonic dysplasia 166250 Tags
Green List (high evidence)	FGFR2	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 NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Beare-Stevenson cutis gyrata syndrome 123790 Craniosynostosis, nonspecific Crouzon syndrome 123500 Craniofacial-skeletal-dermatologic dysplasia 101600 Pfeiffer syndrome 101600 Gastric cancer, somatic 613659 Jackson-Weiss syndrome 123150 LADD syndrome 149730 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Apert syndrome 101200 Bent bone dysplasia syndrome 614592 Tags
Green List (high evidence)	FGFR3	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes CATSHL syndrome, OMIM:610474 camptodactyly-tall stature-scoliosis-hearing loss syndrome, MONDO:0012504 Tags Q1_26_MOI
Green List (high evidence)	FIG4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Charcot-Marie-Tooth disease, type 4J, OMIM:611228 Charcot-Marie-Tooth disease type 4J MONDO:0012640 Yunis Varon syndrome OMIM:216340 Yunis-Varon syndrome MONDO:0008995 Tags
Green List (high evidence)	FKBP10	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Osteogenesis Imperfecta, Recessive Brucks syndrome 1 - 259450 Osteogenesis imperfecta, type XI, 610968 Brucks syndrome Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias Tags
Green List (high evidence)	FLNA	5 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 Expert Review Green NHS GMS 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)	FLNB	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocarpotarsal synostosis syndrome 272460 Atelosteogenesis, type III 108721 Boomerang dysplasia 112310 Atelosteogenesis, type I 108720 Larsen syndrome 150250 Tags
Green List (high evidence)	FN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Spondylometaphyseal dysplasia, corner fracture type 184255 Tags
Green List (high evidence)	FUCA1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fucosidosis 230000 Tags
Green List (high evidence)	FZD2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Omodysplasia 2, OMIM:164745 Robinow syndrome Tags
Green List (high evidence)	GALNS	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis IVA 253000 Tags
Green List (high evidence)	GALNT3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Tumoral calcinosis, hyperphosphatemic, familial I 211900 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900 Tags
Green List (high evidence)	GDF5	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Brachydactyly, type C 113100 Acromesomelic dysplasia, Hunter-Thompson type 201250 Du Pan syndrome 228900 {Osteoarthritis-5} 612400 Chondrodysplasia, Grebe type 200700 Brachydactyly, type A2 112600 Brachydactyly, type A1, C 615072 Symphalangism, proximal, 1B 615298 Multiple synostoses syndrome 2 610017 Tags
Green List (high evidence)	GDF6	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Klippel-Feil syndrome 1, autosomal dominant 118100 Multiple synostoses syndrome type 4 - 617898. Tags
Green List (high evidence)	GHR	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Laron dwarfism, OMIM:262500 Growth hormone insensitivity, partial, OMIM:604271 Increased responsiveness to growth hormone, OMIM:604271 Tags
Green List (high evidence)	GJA1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN 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)	GLB1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes GM1-gangliosidosis, type II 230600 GM1-gangliosidosis, type I 230500 GM1-gangliosidosis, type III 230650 Mucopolysaccharidosis type IVB (Morquio) 253010 Tags
Green List (high evidence)	GLI3	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN 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	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green NHS GMS 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
Green List (high evidence)	GNPAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Rhizomelic Chondrodysplasia Punctata RCDP2 Rhizomelic chondrodysplasia punctata type 2 Chondrodysplasia punctata, rhizomelic, type 2, 222765 Tags
Green List (high evidence)	GNPTAB	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucolipidosis III alpha/beta 252600 Mucolipidosis II alpha/beta 252500 Tags
Green List (high evidence)	GNPTG	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucolipidosis III gamma 252605 Tags
Green List (high evidence)	GNS	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucopolysaccharidosis type IIID, OMIM:252940 Tags
Green List (high evidence)	GORAB	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Geroderma osteodysplasticum 231070 Tags
Green List (high evidence)	GPC6	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Omodysplasia 1 258315 Tags
Green List (high evidence)	GPX4	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Spondylometaphyseal dysplasia, Sedaghatian type 250220 Tags
Green List (high evidence)	GSC	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 Tags
Green List (high evidence)	GUSB	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucopolysaccharidosis VII 253220 Tags
Green List (high evidence)	GZF1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Larsen syndrome joint laxity, short stature, and myopia OMIM:617662 joint laxity, short stature, and myopia MONDO:0060556 Tags
Green List (high evidence)	HDAC8	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 NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Wilson-Turner syndrome 309585 Cornelia de Lange syndrome 5 300882 Tags
Green List (high evidence)	HES7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 4, autosomal recessive 613686 Tags
Green List (high evidence)	HGSNAT	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 Tags
Green List (high evidence)	HHAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Nivelon-Nivelon-Mabille syndrome, OMIM:600092 Tags
Green List (high evidence)	HOXA13	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Hand-foot-genital syndrome 140000 Hand-foot-uterus syndrome 140000 Guttmacher syndrome 176305 Tags
Green List (high evidence)	HOXD13	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Syndactyly, type V 186300 Brachydactyly-syndactyly syndrome 610713 Brachydactyly, type E 113300 Synpolydactyly 1 186000 Brachydactyly, type D 113200 Tags nucleotide-repeat-expansion
Green List (high evidence)	HPGD	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cranioosteoarthropathy 259100 Digital clubbing, isolated congenital 119900 Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 Tags
Green List (high evidence)	HS2ST1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Neurofacioskeletal syndrome with or without renal agenesis,OMIM:619194 Tags
Green List (high evidence)	HSPG2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Schwartz-Jampel syndrome, type 1, OMIM:255800 Schwartz-Jampel syndrome, MONDO:0009717 Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410 Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 Tags
Green List (high evidence)	ICK	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags new-gene-name
Green List (high evidence)	IDH1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941 Maffucci syndrome, OMIM:614569 Maffucci syndrome, MONDO:0013808 Ollier disease/ Dyschondroplasia, OMIM:166000 Ollier disease, MONDO:0008145 Tags mosaicism
Green List (high evidence)	IDS	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucopolysaccharidosis II 309900 Tags
Green List (high evidence)	IDUA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucopolysaccharidosis Ih 607014 Mucopolysaccharidosis Is 607016 Mucopolysaccharidosis Ih/s 607015 Tags
Green List (high evidence)	IFIH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Singleton-Merten syndrome 1, OMIM:182250 Tags
Green List (high evidence)	IFITM5	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Osteogenesis imperfecta, type V 610967 Tags
Green List (high evidence)	IFT122	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia 1 218330 Tags
Green List (high evidence)	IFT140	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 Tags
Green List (high evidence)	IFT172	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 SRTD10 Tags
Green List (high evidence)	IFT43	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 18 with polydactyly - 617866 ?Cranioectodermal dysplasia 3 - 614099 Tags
Green List (high evidence)	IFT52	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102 Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 Tags
Green List (high evidence)	IFT80	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly 611263 Tags
Green List (high evidence)	IFT81	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly -617895 Short-Rib Polydactyly Syndrome Tags
Green List (high evidence)	IHH	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Acrocapitofemoral dysplasia, OMIM:607778 Brachydactyly, type A1, OMIM:112500 Tags
Green List (high evidence)	IKBKG	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 Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ectodermal dysplasia and immunodeficiency 1, OMIM:300291 Tags
Green List (high evidence)	IL11RA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Craniosynostosis and dental anomalies 614188 Tags
Green List (high evidence)	IL1RN	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Phenotypes Interleukin 1 receptor antagonist deficiency, OMIM:612852 Tags
Green List (high evidence)	IMPAD1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Chondrodysplasia with joint dislocations, GPAPP type 614078 Tags new-gene-name
Green List (high evidence)	INPPL1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Opsismodysplasia 258480 Tags
Green List (high evidence)	2q37.3 terminal region (includes HDAC4) Loss ISCA-37394-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS 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)	16p13.3 region (includes CREBBP) Loss ISCA-37406-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes 610543 Tags
Green List (high evidence)	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss ISCA-37418-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes Potocki-Lupski syndrome hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders Smith-Magenis syndrome Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance 182290 moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies Dental abnormalities Tags
Green List (high evidence)	1p36 terminal region (includes GABRD) Loss ISCA-37434-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes posteriorly rotated, low-set, abnormal ears brachycephaly epicanthus heart defects pointed chin deep-set eyes microcephaly hypotonia seizures poor/absent speech central nervous system anomalies large anterior fontanels microbrachycephaly mental retardation growth impairment large, late-closing anterior fontanel flat nose nasal bridge developmental delay hearing impairment distinct dysmorphic features 1p36 deletion syndrome 607872 Tags
Green List (high evidence)	11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss ISCA-37441-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes Potocki-Shaffer syndrome multiple exostoses biparietal foramina intellectual disability strabismus minor craniofacial anomalies myopia ophthalmologic anomalies 601224 mental retardation enlarged anterior fontanel genital abnormalities in males parietal foramina developmental delay Tags
Green List (high evidence)	DLK1-MEG3 Intergenic Region Loss ISCA-37447-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources ClinGen Expert Review Green Phenotypes Kagami-Ogata syndrome, OMIM:608149 Temple syndrome, OMIM:616222 Tags
Green List (high evidence)	17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss ISCA-37501-Loss Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 17q23.1-q23.2 deletion syndrome, 613355 PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss Tags
Green List (high evidence)	KAT6B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Genitopatellar syndrome 606170 SBBYSS syndrome 603736 GTPTS,Ohdo Tags
Green List (high evidence)	KDELR2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteogenesis imperfecta, type XXI, OMIM:619131 Increased susceptibility to fractures Joint hypermobility Scoliosis Bowing of the legs and arms Tags
Green List (high evidence)	KIAA0753	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes ?Orofaciodigital syndrome XV 617127 Joubert syndrome Short-rib skeletal dysplasia Tags
Green List (high evidence)	KIF22	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 Tags
Green List (high evidence)	KIF24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Skeletal dysplasia Tags gene-checked
Green List (high evidence)	KIF5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes kyphomelic dysplasia, MONDO:0008881 Tags gene-checked
Green List (high evidence)	KIF7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 12 200990 Acrocallosal syndrome 200990 Al-Gazali-Bakalinova syndrome 607131 Hydrolethalus syndrome 2 614120 Tags
Green List (high evidence)	KMT2D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Kabuki syndrome 1 - 147920 Tags
Green List (high evidence)	LBR	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pelger-Huet anomaly with mild skeletal anomalies 618019 Greenberg skeletal dysplasia 215140 Pelger-Huet anomaly 169400 Tags
Green List (high evidence)	LEMD3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Melorheostosis with osteopoikilosis 155950 IC Osteopoikilosis 166700 Buschke-Ollendorff syndrome 166700 Tags
Green List (high evidence)	LFNG	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 Tags
Green List (high evidence)	LIFR	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559 Tags
Green List (high evidence)	LMBR1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Laurin-Sandrow syndrome 135750 Polydactyly, preaxial type II 174500 Hypoplastic or aplastic tibia with polydactyly 188740 Triphalangeal thumb, type I 174500 Triphalangeal thumb-polysyndactyly syndrome 174500 Syndactyly, type IV 186200 Acheiropody 200500 Tags
Green List (high evidence)	LMNA	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Emery-Dreifuss muscular dystrophy 2, 181350 Heart-hand syndrome, Slovenian type 610140 Charcot-Marie-Tooth disease, type 2B1 605588 Emery-Dreifuss muscular dystrophy 3, 616516 Cardiomyopathy, dilated, 1A 115200 Hutchinson-Gilford progeria 176670 Mandibuloacral dysplasia 248370 Lipodystrophy, familial partial, 2 151660 Restrictive dermopathy, lethal 275210 Foundation Trust) Mandibuloacral dysplasia 248370 616516 Muscular dystrophy, congenital 613205 Muscular dystrophy, limb-girdle, type 1B 159001 Malouf syndrome 212112 Tags
Green List (high evidence)	LMX1B	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nail-patella syndrome 161200 Nail-patella syndrome 161200 Tags
Green List (high evidence)	LONP1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373 Tags
Green List (high evidence)	LPIN2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Majeed syndrome, OMIM:609628 Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia Tags
Green List (high evidence)	LRP4	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Sclerosteosis 2 614305 Cenani-Lenz syndactyly syndrome 212780 Tags
Green List (high evidence)	LRP5	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green NHS GMS Phenotypes Exudative vitreoretinopathy 4 601813 [Bone mineral density variability 1] 601884 Osteopetrosis, autosomal dominant 1 607634 Osteosclerosis 144750 van Buchem disease, type 2 607636 Osteoporosis-pseudoglioma syndrome 259770 Hyperostosis, endosteal 144750 {Osteoporosis} 166710 Tags
Green List (high evidence)	LRRK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Osteosclerotic metaphyseal dysplasia (OSMD), OMIM: 615198 Osteosclerotic metaphyseal dysplasia, MONDO:0014080 Tags
Green List (high evidence)	LTBP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes inherited cutis laxa MONDO:0100237 Cutis laxa, autosomal recessive, type IIE, OMIM:619451 Tags
Green List (high evidence)	LTBP3	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Geleophysic dysplasia 3, OMIM:617809 Dental anomalies and short stature, OMIM:610216 geleophysic dysplasia 3, MONDO:0054722, Tags
Green List (high evidence)	MAFB	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Multicentric carpotarsal osteolysis syndrome 166300 Tags
Green List (high evidence)	MAN2B1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mannosidosis, alpha-, types I and II 248500 Tags
Green List (high evidence)	MAP3K7	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Frontometaphyseal dysplasia 2, 617137 Tags
Green List (high evidence)	MASP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3MC syndrome 1 - 257920 Tags
Green List (high evidence)	MATN3	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes MED multiple epiphyseal dysplasia Multiple Epiphyseal Dysplasia, Dominant Disproportionate Short Stature Epiphyseal dysplasia, multiple, 5, 607078 {Osteoarthritis susceptibility 2}, 140600 Spondyloepimetaphyseal dysplasia, 608728 Spondyloepimetaphyseal dysplasia, 608728 Tags
Green List (high evidence)	MBTPS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Skeletal dysplasia ?Spondyloepiphyseal dysplasia, Kondo-Fu type OMIM:618392 spondyloepiphyseal dysplasia, kondo-fu type MONDO:0032721 Tags
Green List (high evidence)	MEGF8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Carpenter syndrome 2 614976 Tags
Green List (high evidence)	MEOX1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Klippel-Feil syndrome 2 214300 Tags
Green List (high evidence)	MESD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteogenesis imperfecta, type XX, OMIM:618644 Osteogenesis imperfecta, type 20, MONDO:0032846 Tags
Green List (high evidence)	MESP2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 2, autosomal recessive 608681 Tags
Green List (high evidence)	MGP	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Keutel syndrome, OMIM:245150 spondyloepiphyseal dysplasia, MONDO:0016761 Tags
Green List (high evidence)	MKKS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Polydactyly Bardet-Biedl syndrome 6, 605231 McKusick-Kaufman syndrome, 236700 Tags
Green List (high evidence)	MKS1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 1 249000 Bardet-Biedl syndrome 13 615990 Tags
Green List (high evidence)	MMP13	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Metaphyseal anadysplasia 1 602111 Spondyloepimetaphyseal dysplasia, Missouri type 602111 Metaphyseal dysplasia, Spahr type - 250400 Tags
Green List (high evidence)	MMP2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Multicentric osteolysis, nodulosis, and arthropathy 259600 Tags
Green List (high evidence)	MNX1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Currarino syndrome 176450 Tags
Green List (high evidence)	MPDU1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type If 609180 Tags
Green List (high evidence)	MSX2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Craniosynostosis, type 2 604757 Parietal foramina with cleidocranial dysplasia 168550 Parietal foramina 1 168500 Tags
Green List (high evidence)	MTX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Skeletal dysplasia Mandibuloacral dysplasia lipodystrophy arterial calcification Mandibuloacral dysplasia progeroid syndrome, OMIM:619127 Tags
Green List (high evidence)	MYCN	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 Tags
Green List (high evidence)	MYH3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, MONDO:0008338 Tags
Green List (high evidence)	MYO18B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 Tags
Green List (high evidence)	NAGLU	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 Tags
Green List (high evidence)	NANS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 Tags
Green List (high evidence)	NBAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Tags
Green List (high evidence)	NEK1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short rib thoracic dysplasia 6 with or without polydactyly - 263520 SRPS type 2 (Majewski) Short Rib Polydactyly Syndrome Short rib-polydactyly syndrome, type IIA, 263520 Tags
Green List (high evidence)	NEPRO	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Anauxetic dysplasia 3, OMIM:618853 Tags new-gene-name
Green List (high evidence)	NEU1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Sialidosis, type I, OMIM:256550 Sialidosis, type II, OMIM:256550 Tags
Green List (high evidence)	NF1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Neurofibromatosis, type 1 162200 Neurofibromatosis, type 1 162200 Neurofibromatosis, familial spinal 162210 Neurofibromatosis-Noonan syndrome 601321 Neurofibromatosis, familial spinal 162210 Neurofibromatosis-Noonan syndrome 601321 Tags
Green List (high evidence)	NFIX	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Marshall-Smith syndrome 602535 Sotos syndrome 2 614753 Tags
Green List (high evidence)	NIPBL	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cornelia de Lange syndrome 1 122470 Tags
Green List (high evidence)	NKX3-2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia 613330 Tags
Green List (high evidence)	NLRP3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes CINCA syndrome, OMIM:607115 Tags
Green List (high evidence)	NOG	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Symphalangism, proximal, 1A 185800 Brachydactyly, type B2 611377 Tarsal-carpal coalition syndrome 186570 Stapes ankylosis with broad thumb and toes 184460 Multiple synostoses syndrome 1 186500 Tags
Green List (high evidence)	NOTCH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Phenotypes Limb, scalp and skull defects AOS Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly) Adams-Oliver syndrome 5, 616028 Tags
Green List (high evidence)	NOTCH2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500 Alagille syndrome 2 610205 Tags
Green List (high evidence)	NPR2	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Acromesomelic dysplasia, Maroteaux type 602875 Short stature with nonspecific skeletal abnormalities 616255 Epiphyseal chondrodysplasia, Miura type 615923 Tags
Green List (high evidence)	NPR3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Boudin-Mortier syndrome, OMIM:619543 Boudin-Mortier syndrome, MONDO:0859194 Tags
Green List (high evidence)	NSD1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Sotos syndrome 1 117550 Tags
Green List (high evidence)	NSDHL	5 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 NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 CK syndrome 300831 Tags
Green List (high evidence)	NT5E	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Calcification of joints and arteries, OMIM:211800 hereditary arterial and articular multiple calcification syndrome, MONDO:0008895 Tags
Green List (high evidence)	NXN	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Robinow syndrome, autosomal recessive 2, OMIM:618529 Tags
Green List (high evidence)	OBSL1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-M syndrome 2 612921 Tags
Green List (high evidence)	OFD1	5 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 NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 10 300804 Simpson-Golabi-Behmel syndrome, type 2 300209 XLR Orofaciodigital syndrome I 311200 XLD Tags
Green List (high evidence)	ORC1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meier-Gorlin syndrome 1, OMIM:224690 Tags
Green List (high evidence)	ORC4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meier-Gorlin syndrome 2, OMIM:613800 Tags
Green List (high evidence)	ORC6	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meier-Gorlin syndrome 3, OMIM:613803 Tags
Green List (high evidence)	OSTM1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal recessive 5 259720 Tags
Green List (high evidence)	P3H1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS UKGTN Phenotypes Osteogenesis imperfecta, type VIII 610915 Tags
Green List (high evidence)	P4HB	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Cole-Carpenter syndrome 1 112240 Cole-Carpenter syndrome 1 112240 Tags
Green List (high evidence)	PAPSS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 Tags
Green List (high evidence)	PAX3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Craniofacial-deafness-hand syndrome, 122880 Waardenburg syndrome, type 1, 193500 Waardenburg syndrome, type 3, 148820 Tags
Green List (high evidence)	PCNT	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 Tags
Green List (high evidence)	PCYT1A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Tags
Green List (high evidence)	PDE3A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Hypertension and brachydactyly syndrome, 112410 Tags
Green List (high evidence)	PDE4D	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Acrodysostosis 2, with or without hormone resistance 614613 Acrodysostosis 2, with or without hormone resistance 614613 Tags
Green List (high evidence)	PEX5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 2A (Zellweger) 214110 Rhizomelic chondrodysplasia punctata, type 5 616716 Tags
Green List (high evidence)	PEX7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100 Rhizomelic CDP type 1 Rhizomelic chondrodysplasia punctata, type 1, 215100 Tags
Green List (high evidence)	PGM3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Immunodeficiency 23 615816 Immunodeficiency 23 615816 Tags
Green List (high evidence)	PHEX	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypophosphatemic rickets, X-linked dominant 307800 Tags
Green List (high evidence)	PHGDH	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green List (high evidence)	PIGT	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 Tags
Green List (high evidence)	PIGV	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300 Tags
Green List (high evidence)	PIK3C2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oculoskeletodental syndrome 618440 Tags
Green List (high evidence)	PIK3R1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS UKGTN Phenotypes SHORT syndrome 269880 Tags
Green List (high evidence)	PISD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Liberfarb syndrome, OMIM:618889 Tags
Green List (high evidence)	PITX1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800 Liebenberg syndrome 186550 Tags
Green List (high evidence)	PKDCC	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rhizomelic limb shortening with dysmorphic features, OMIM:618821 Tags
Green List (high evidence)	PLOD2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green NHS GMS Phenotypes Bruck syndrome 2 609220 Tags
Green List (high evidence)	PLS3	3 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 Expert Review Expert Review Green NHS GMS Phenotypes Bone mineral density QTL18, osteoporosis 300910 Tags
Green List (high evidence)	POC1A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 Tags
Green List (high evidence)	POLR1A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Acrofacial dysostosis, Cincinnati type 616462 Tags
Green List (high evidence)	POLR1B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Treacher-Collins syndrome 4 OMIM:618939 treacher collins syndrome 4 MONDO:0030067 Tags
Green List (high evidence)	POLR1C	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Treacher Collins syndrome 3 248390 Tags
Green List (high evidence)	POLR1D	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Treacher Collins syndrome 2 613717 Tags
Green List (high evidence)	POP1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Anauxetic dysplasia 2, 617396 Tags
Green List (high evidence)	POR	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green List (high evidence)	PPIB	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Osteogenesis imperfecta, type IX 259440 Osteogenesis imperfecta, type IX 259440 Tags
Green List (high evidence)	PRKAR1A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Acrodysostosis 1, with or without hormone resistance, OMIM:101800 Tags
Green List (high evidence)	PRKG2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Acromesomelic dysplasia 4, OMIM:619636 Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638 Tags
Green List (high evidence)	PRMT7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Tags
Green List (high evidence)	PSAT1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Neu-Laxova syndrome 2 616038 Tags
Green List (high evidence)	PSMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes neurodevelopmental disorder, MONDO:0700092 scoliosis, MONDO:0005392 Acetabular dysplasia, HP:0008807 brachymetatarsy Tags
Green List (high evidence)	PSPH	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Phosphoserine phosphatase deficiency 614023 Tags
Green List (high evidence)	PTDSS1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Lenz-Majewski hyperostotic dwarfism 151050 Tags
Green List (high evidence)	PTH1R	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Failure of tooth eruption, primary 125350 Eiken syndrome 600002 Metaphyseal chondrodysplasia, Murk Jansen type 156400 Chondrodysplasia, Blomstrand type 215045 Tags
Green List (high evidence)	PTHLH	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Brachydactyly, type E2 613382 Brachydactyly, type E2 613382 Tags
Green List (high evidence)	PTPN11	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Metachondromatosis 156250 LEOPARD syndrome 1 151100 Noonan syndrome 1 163950 LEOPARD syndrome 1 151100 Tags
Green List (high evidence)	PUF60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Other Phenotypes Verheij syndrome, 615583 PUF60 syndrome VRJS Chromosome 8q24.3 deletion syndrome Tags microdeletion
Green List (high evidence)	PYCR1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIB 612940 Cutis laxa, autosomal recessive, type IIIB 614438 Tags
Green List (high evidence)	RAB23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Carpenter syndrome 201000 Tags
Green List (high evidence)	RAB33B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Smith-McCort dysplasia 2 615222 Tags
Green List (high evidence)	RASGRP2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects Bleeding disorder, platelet-type, 18 615888 Tags
Green List (high evidence)	RBM8A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Thrombocytopenia-absent radius syndrome 274000 Tags
Green List (high evidence)	RBPJ	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Adams-Oliver syndrome 3, 614814 Tags
Green List (high evidence)	RECQL4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Baller-Gerold syndrome, OMIM:218600 RAPADILINO syndrome, OMIM:266280 Rothmund-Thomson syndrome, type 2, OMIM:268400 Tags
Green List (high evidence)	RFT1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital disorder of glycosylation, type In 612015 Tags
Green List (high evidence)	RINT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes liver failure short stature skeletal abnormalities Infantile liver failure syndrome 3 OMIM:618641 infantile liver failure syndrome 3 MONDO:0032844 Tags
Green List (high evidence)	RIPPLY2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 6, OMIM:616566 spondylocostal dysostosis 6, autosomal recessive, MONDO:0014694 Tags
Green List (high evidence)	RMRP	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cartilage-hair hypoplasia 250250 Anauxetic dysplasia 607095 Metaphyseal dysplasia without hypotrichosis 250460 Tags locus-type-rna-long-non-coding
Green List (high evidence)	RNU4ATAC	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen 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	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Brachydactyly, type B1, OMIM:113000 (AD) Robinow syndrome, autosomal recessive, OMIM:268310 (AR) Tags
Green List (high evidence)	RPGRIP1L	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes COACH syndrome 216360 Meckel syndrome 5 611561 Joubert syndrome 7 611560 Tags
Green List (high evidence)	RPL13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728 Tags
Green List (high evidence)	RUNX2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510 Cleidocranial dysplasia, forme fruste, with brachydactyly 119600 Cleidocranial dysplasia, forme fruste, dental anomalies only 119600 Cleidocranial dysplasia 119600 Tags
Green List (high evidence)	SALL1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480 Tags
Green List (high evidence)	SALL4	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Okihiro (Duane-radial ray) syndrome 607323 IVIC syndrome 147750 Tags
Green List (high evidence)	SBDS	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Shwachman-Diamond syndrome 260400 Shwachman-Diamond syndrome 260400 Tags
Green List (high evidence)	SCARF2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Van den Ende-Gupta syndrome 600920 Tags
Green List (high evidence)	SCUBE3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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)	SEC24D	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Osteogenesis Imperfecta, Cole Carpenter syndrome Cole-Carpenter syndrome SYNDROMIC OSTEOGENESIS IMPERFECTA Tags
Green List (high evidence)	SERPINF1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Osteogenesis imperfecta, type VI, 613982 osteogenesis imperfecta OI/osteoporosis Osteogenesis Imperfecta, Recessive Tags
Green List (high evidence)	SERPINH1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Osteogenesis Imperfecta, Recessive OI3 Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias {Preterm premature rupture of the membranes, susceptibility to}, 610504 Osteogenesis imperfecta, type X, 613848 Tags
Green List (high evidence)	SETD2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Luscan-Lumish syndrome 616831 Luscan-Lumish syndrome 616831 Tags
Green List (high evidence)	SETD5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Intellectual developmental disorder, autosomal dominant 23, OMIM:615761 skeletal dysplasia, MONDO:0018230 facial dysmorphism Tags
Green List (high evidence)	SF3B4	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Acrofacial dysostosis 1, Nager type 154400 Tags
Green List (high evidence)	SFRP4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes PYL Metaphyseal dysplasia Pyle disease 265900 Tags
Green List (high evidence)	SGMS2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550 calvarial doughnut lesions-bone fragility syndrome, MONDO:0007470 Tags
Green List (high evidence)	SGSH	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 Tags
Green List (high evidence)	SH3BP2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cherubism, OMIM:118400 Tags
Green List (high evidence)	SH3PXD2B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Frank-ter Haar syndrome 249420 Tags
Green List (high evidence)	SHOX	4 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen 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)	SKI	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Shprintzen-Goldberg syndrome 182212 Tags
Green List (high evidence)	SLC10A7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes skeletal dysplasia and amelogenesis imperfecta Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 Tags
Green List (high evidence)	SLC17A5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Salla disease, OMIM:604369 Sialic acid storage disorder, infantile, OMIM:269920 Tags
Green List (high evidence)	SLC26A2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes ACG1B,DD,rMED multiple epiphyseal dysplasia Multiple Epiphyseal Dysplasia, Recessive Epiphyseal dysplasia, multiple, 4 Tags
Green List (high evidence)	SLC29A3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Tags
Green List (high evidence)	SLC34A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 Tags
Green List (high evidence)	SLC34A3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypophosphatemic rickets with hypercalciuria 241530 Tags
Green List (high evidence)	SLC35C1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Congenital disorder of glycosylation, type IIc 266265 GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	SLC35D1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Schneckenbecken dysplasia 269250 Schneckenbecken dysplasia 269250 Tags
Green List (high evidence)	SLC39A13	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 Tags
Green List (high evidence)	SLCO2A1	6 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2, MONDO:0013756 Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant, MONDO:0008172 Tags Q2_25_ MOI
Green List (high evidence)	SMAD3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Loeys-Dietz syndrome 3 613795 Tags
Green List (high evidence)	SMAD4	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Myhre syndrome 139210 Myhre syndrome 139210 Tags
Green List (high evidence)	SMAD6	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes {Radioulnar synostosis, nonsyndromic}, OMIM:179300 Tags
Green List (high evidence)	SMARCAL1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Schimke immunoosseous dysplasia, OMIM:242900 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 NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370 Tags
Green List (high evidence)	SMC3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Cornelia de Lange syndrome 3 610759 Tags
Green List (high evidence)	SMOC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Microphthalmia with limb anomalies 206920 Ophthalmo-acromelic syndrome Polydactyly Tags
Green List (high evidence)	SNRPB	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Cerebrocostomandibular syndrome 117650 Tags
Green List (high evidence)	SNX10	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Osteopetrosis, autosomal recessive 8 615085 Tags
Green List (high evidence)	SOST	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Phenotypes Craniodiaphyseal dysplasia, autosomal dominant 122860 Van Buchem disease 239100 Sclerosteosis 1 269500 Tags
Green List (high evidence)	SOX9	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Campomelic dysplasia with autosomal sex reversal 114290 Acampomelic campomelic dysplasia 114290 Campomelic dysplasia 114290 Tags
Green List (high evidence)	SP7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Osteogenesis imperfecta, type XII 613849 Tags
Green List (high evidence)	SPARC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta, type XVII, OMIM:616507 Tags
Green List (high evidence)	STT3A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 Tags
Green List (high evidence)	SUMF1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Multiple sulfatase deficiency 272200 Tags
Green List (high evidence)	TALDO1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Transaldolase deficiency 606003 Tags
Green List (high evidence)	TAPT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 Tags
Green List (high evidence)	TBCE	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Kenny-Caffey syndrome, type 1 244460. Hypoparathyroidism-retardation-dysmorphism syndrome 241410 Kenny-Caffey syndrome, type 1 244460 Tags
Green List (high evidence)	TBX15	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cousin syndrome 260660 Tags
Green List (high evidence)	TBX3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ulnar-mammary syndrome 181450 Tags
Green List (high evidence)	TBX4	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN 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, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Holt-Oram syndrome 142900 Tags
Green List (high evidence)	TBX6	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 5 122600 Spondylocostal dysostosis 5 122600 Tags
Green List (high evidence)	TBXAS1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ghosal hematodiaphyseal syndrome, OMIM:231095 Tags
Green List (high evidence)	TCIRG1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Osteopetrosis, autosomal recessive 1 259700 Tags
Green List (high evidence)	TCOF1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Treacher Collins syndrome 1 154500 Tags
Green List (high evidence)	TCTEX1D2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Tags new-gene-name
Green List (high evidence)	TCTN2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 24 616654 Meckel syndrome 8 613885 Tags
Green List (high evidence)	TCTN3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Orofaciodigital syndrome IV 258860 Joubert syndrome 18 614815 Tags
Green List (high evidence)	TERT	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Tags
Green List (high evidence)	TGFB1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Camurati-Engelmann disease, OMIM:131300 Tags
Green List (high evidence)	TGFB2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Loeys-Dietz syndrome 4 614816 Tags
Green List (high evidence)	TGFBR2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Loeys-Dietz syndrome 2 610168 Tags
Green List (high evidence)	TMCO1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 Tags
Green List (high evidence)	TMEM165	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type IIk 614727 Tags
Green List (high evidence)	TMEM216	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 2 603194 Joubert syndrome 2 608091 Tags
Green List (high evidence)	TMEM231	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 20 614970 Meckel syndrome 11 615397 Tags
Green List (high evidence)	TMEM38B	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Osteogenesis imperfecta, type XIV, OMIM:615066 Osteogenesis imperfecta type 14, MONDO:0014029 Tags
Green List (high evidence)	TNFRSF11A	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Osteolysis, familial expansile 174810 Osteopetrosis, autosomal recessive 7 612301 Paget disease of bone 2, early-onset 602080 Tags
Green List (high evidence)	TNFRSF11B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Paget disease of bone 5, juvenile-onset 239000 Paget disease of bone 5, juvenile-onset 239000 Tags
Green List (high evidence)	TNFSF11	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Osteopetrosis, autosomal recessive 2 259710 Tags
Green List (high evidence)	TOMM7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Garg-Mishra progeroid syndrome, OMIM:620601 Garg-Mishra progeroid syndrome, MONDO:0957953 Tags
Green List (high evidence)	TONSL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068 Tags
Green List (high evidence)	TP63	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN 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)	TRAPPC2	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes Spondyloepiphyseal dysplasia tarda 313400 Spondyloepiphyseal dysplasia tarda 313400 Tags
Green List (high evidence)	TREM2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nasu-Hakola disease 221770 Tags
Green List (high evidence)	TRIP11	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achondrogenesis, type IA 200600 Achondrogenesis, type IA 200600 Tags
Green List (high evidence)	TRPS1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Trichorhinophalangeal syndrome, type III 190351 Trichorhinophalangeal syndrome, type I 190350 Tags
Green List (high evidence)	TRPV4	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Brachyolmia type 3 113500 Hereditary motor and sensory neuropathy, type IIc 606071 Digital arthropathy-brachydactyly, familial 606835 SED, Maroteaux type 184095 Parastremmatic dwarfism 168400 Metatropic dysplasia 156530 Scapuloperoneal spinal muscular atrophy 181405 Spinal muscular atrophy, distal, congenital nonprogressive 600175 Spondylometaphyseal dysplasia, Kozlowski type 184252 Tags
Green List (high evidence)	TRPV6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperparathyroidism, transient neonatal, 618188 Tags
Green List (high evidence)	TTC21B	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis 12, 613820 Asphyxiating Thoracic Dystrophy SRTD4 Tags
Green List (high evidence)	TTC8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Polydactyly Bardet-Biedl syndrome 8, 615985 Tags
Green List (high evidence)	TWIST1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Robinow-Sorauf syndrome 180750 Saethre-Chotzen syndrome 101400 Craniosynostosis, type 1 123100 Saethre-Chotzen syndrome with eyelid anomalies 101400 Tags
Green List (high evidence)	TYROBP	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Nasu-Hakola disease 221770 Tags
Green List (high evidence)	UBA2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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)	UFSP2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes ?Beukes Hip Dysplasia OMIM:142669 hip dysplasia, Beukes type MONDO:0007726 ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974 spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702 Tags
Green List (high evidence)	UNC45A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteootohepatoenteric syndrome, OMIM:619377 Tags
Green List (high evidence)	VDR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Rickets, vitamin D-resistant, type IIA, 277440 Tags
Green List (high evidence)	WBP11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 Tags gene-checked
Green List (high evidence)	WDPCP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085 ?Bardet-Biedl syndrome 15, 615992 Tags
Green List (high evidence)	WDR19	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Cranioectodermal dysplasia 4, 614378 Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Asphyxiating thoracic dystrophy 5, 614376 SRTD5 Tags
Green List (high evidence)	WDR34	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name
Green List (high evidence)	WDR35	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly 614091 Cranioectodermal dysplasia 2 613610 Tags
Green List (high evidence)	WDR60	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly 615503 Tags new-gene-name
Green List (high evidence)	WISP3	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Arthropathy, progressive pseudorheumatoid, of childhood 208230 Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 Tags new-gene-name
Green List (high evidence)	WNT1	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221 Osteogenesis imperfecta, type XV, OMIM:615220 Tags
Green List (high evidence)	WNT10B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Split-hand/foot malformation 6, OMIM:225300 Tags
Green List (high evidence)	WNT5A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Robinow syndrome, autosomal dominant 1 180700 Tags
Green List (high evidence)	WNT7A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ulna and fibula, absence of, with severe limb deficiency 276820 Fuhrmann syndrome 228930 Tags
Green List (high evidence)	XRCC4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 Tags
Green List (high evidence)	XYLT1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Desbuquois dysplasia 2, OMIM:615777 Desbuquois dysplasia 2, MONDO:0014343 Tags STR
Green List (high evidence)	XYLT2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Spondyloocular syndrome 605822 Tags
Green List (high evidence)	YY1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Gabriele-de Vries syndrome 617557 Gabriele-de Vries syndrome 617557 Tags
Green List (high evidence)	ZMPSTE24	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Mandibuloacral dysplasia with type B lipodystrophy 608612 Restrictive dermopathy, lethal 275210 Tags
Green List (high evidence)	ZNF687	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Research Phenotypes Paget disease of bone 6, OMIM:616833 Tags
Green List (high evidence)	ZSWIM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Acromelic frontonasal dysostosis 603671 Tags
Amber List (moderate evidence)	ABL1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature NHS GMS Phenotypes Congenital heart defects and skeletal malformations syndrome, 617602 Tags missense
Amber List (moderate evidence)	B9D1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 9, OMIM:614209 Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Joubert syndrome 27, MONDO:0014927 Tags
Amber List (moderate evidence)	BTRC	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature 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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber List (moderate evidence)	CSNK1G1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes early-onset epileptic encephalopathy and microcephaly Tags gene-checked
Amber List (moderate evidence)	CTGF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Kyphomelic dysplasia, OMIM:211350 kyphomelic dysplasia, MONDO:0008881 spondyloepimetaphyseal dysplasia, MONDO:0100510 Tags new-gene-name Q1_25_ promote_green watchlist_moi
Amber List (moderate evidence)	DROSHA	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Seizures Cerebral white matter atrophy Abnormality of the corpus callosum Abnormality of movement Stereotypic behavior Abnormality of head or neck Short foot Tags gene-checked locus-type-rna-micro
Amber List (moderate evidence)	EN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ENDOVE syndrome, limb-only type, MIM# 619217 ENDOVE syndrome, limb-brain type, MIM# 619218 Tags watchlist
Amber List (moderate evidence)	FBLN1	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 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)	FGF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260 Jeune syndrome, MONDO:0018770 Tags Q3_25_promote_green
Amber List (moderate evidence)	GNPNAT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rhizomelic skeletal dysplasia Tags
Amber List (moderate evidence)	H2AFY	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Liebenberg syndrome brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520 Tags cnv currently-ngs-unreportable
Amber List (moderate evidence)	HDAC4	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Albright hereditary osteodystrophy type 3 Brachydactyly-intellectual disability Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430 Albright hereditary osteodystrophy-like syndrome Del(2)(q37) 600430 Tags
Amber List (moderate evidence)	HEATR3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature 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 watchlist
Amber List (moderate evidence)	HNRNPK	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Other Phenotypes Orphanet:453499 OMIM:616580 Au-Kline syndrome:616580 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation Orphanet:453499 Tags
Amber List (moderate evidence)	LRRC8C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes TIMES syndrome, OMIM:621056 Tags
Amber List (moderate evidence)	MANBA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Beta-mannosidosis, 248510 Tags watchlist
Amber List (moderate evidence)	MBTPS2	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Phenotypes Osteogenesis imperfecta, type XIX, OMIM:301014 osteogenesis imperfecta, type 19, MONDO:0049223 Tags
Amber List (moderate evidence)	MIA3	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 Tags Q4_25_promote_green
Amber List (moderate evidence)	MIR17HG	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Phenotypes FS2 Brachydactyly with short stature and microcephaly Microcephaly-oculo-digito-esophageal-duodenal syndrome Feingold syndrome 2, 614326 Tags deletions locus-type-rna-long-non-coding watchlist
Amber List (moderate evidence)	MMP9	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Metaphyseal anadysplasia 2 613073 Tags
Amber List (moderate evidence)	NMNAT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Tags cnv watchlist
Amber List (moderate evidence)	NRCAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833 Tags watchlist
Amber List (moderate evidence)	PAM16	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 Tags
Amber List (moderate evidence)	PDIA6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Tags
Amber List (moderate evidence)	PFN1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Paget’s disease of bone bone Paget disease MONDO:0005382 Tags
Amber List (moderate evidence)	PLEKHM1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Osteopetrosis, autosomal recessive 6 - 611497 Osteopetrosis, autosomal recessive 6 611497 Osteopetrosis, autosomal dominant 3 - 618107 Tags watchlist
Amber List (moderate evidence)	PTBP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature NHS GMS Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags Q3_25_NHS_review Q3_25_promote_green
Amber List (moderate evidence)	RAD21	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Cornelia de Lange syndrome 4, OMIM:614701 Tags
Amber List (moderate evidence)	RSPRY1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 Tags Q1_25_ promote_green
Amber List (moderate evidence)	SIK3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162 spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571 Tags watchlist
Amber List (moderate evidence)	SLC13A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes impaired sulfate transport and skeletal dysplasia Tags gene-checked Q1_25_ promote_green
Amber List (moderate evidence)	SLC35B2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Abnormality of the skeletal system Short long bone Short stature Abnormality of epiphysis morphology Scoliosis Multiple joint dislocation Global develpmental delay Intellectual disability CNS hypomyelination Abnormality of the corpus callosum Cerebral atrophy Abnormality of the amniotic fluid Tags
Amber List (moderate evidence)	SUCO	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Osteogenesis imperfecta, MONDO:0019019 skeletal dysplasia, HP:0002652 osteopenia Tags
Amber List (moderate evidence)	TMEM251	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dysostosis multiplex, Ain-Naz type, OMIM:19345 severe short stature Tags gene-checked new-gene-name
Amber List (moderate evidence)	VPS33A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mucopolysaccharidosis-plus syndrome, OMIM:617303 mucopolysaccharidosis-plus syndrome, MONDO:0015012 Tags Q1_25_ promote_green
Red List (low evidence)	ACVR2B	1 review	Unknown	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Heterotaxy, visceral, 4, autosomal 613751 Tags
Red List (low evidence)	ADGRV1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	ADI1	0 reviews	Unknown	Sources Phenotypes No OMIM or G2P phenotype Tags
Red List (low evidence)	AHI1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	AIPL1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	AKT1	4 reviews 2 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes Proteus syndrome, somatic 176920 Cowden syndrome 6 615109 Tags
Red List (low evidence)	ARID1A	0 reviews	Not set	Sources Phenotypes Coffin-Siris Tags
Red List (low evidence)	ARID1B	2 reviews 1 green	Not set	Sources Expert Review Red NHS GMS Phenotypes Coffin-Siris syndrome type 1 - 135900 Coffin-Siris Tags
Red List (low evidence)	ARL13B	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	ATXN10	2 reviews	Other	Sources Emory Genetics Laboratory Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN10_ATTCT STR	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Phenotypes Spinocerebellar ataxia 10, OMIM:603516 spinocerebellar ataxia type 10, MONDO:0011330 Tags STR
Red List (low evidence)	B9D2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Red List (low evidence)	BANF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Nestor-Guillermo progeria syndrome 614008 Tags
Red List (low evidence)	C2orf71	1 review	Not set	Sources Emory Genetics Laboratory Tags new-gene-name
Red List (low evidence)	C5orf42	1 review	Not set	Sources Emory Genetics Laboratory Tags new-gene-name
Red List (low evidence)	CCDC28B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Phenotypes {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red List (low evidence)	CCDC39	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	CCDC40	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	CD96	2 reviews 1 red	Not set	Sources NHS GMS Phenotypes C-syndrome 217750 (opitz trigonocephaly) Tags
Red List (low evidence)	CDC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meier-Gorlin syndrome 5, OMIM:613805 Tags
Red List (low evidence)	CDH23	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	CEP164	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	CEP41	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	CFTR	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	CKAP2L	2 reviews 1 green	Not set	Sources Expert Review Red NHS GMS Phenotypes Syndactyly with microcephaly and MR (Filippi syndrome) 272440 Tags
Red List (low evidence)	CLRN1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	COL12A1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693) Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353) Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339) Tags
Red List (low evidence)	COL5A1	0 reviews	Not set	Sources Expert Tags
Red List (low evidence)	COLEC10	2 reviews	Not set	Sources NHS GMS Phenotypes 3MC syndrome 3 -248340 Tags
Red List (low evidence)	CRB1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	CRELD1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	CRX	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	CYP26B1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 Tags
Red List (low evidence)	DACT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Other Phenotypes ?Townes-Brocks syndrome 2,617466 TBS2 Tags
Red List (low evidence)	DLX6	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes Split-hand/foot malformation 1 183600 Split-hand/foot malformation 1 with sensorineural hearing loss 220600 Tags
Red List (low evidence)	DNAAF1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	DNAAF2	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	DNAAF3	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	DNAH11	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	DNAH5	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	DNAI1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	DNAI2	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	DNAL1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	DOLPP1	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features) Tags
Red List (low evidence)	DPM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital disorder of glycosylation, type Iu 615042 Tags
Red List (low evidence)	DPM3	2 reviews 1 green	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital disorder of glycosylation, type Io 612937 Tags
Red List (low evidence)	DSPP	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Dentinogenesis imperfecta, Shields type II, 125490 Deafness, autosomal dominant 36, with dentinogenesis, 605594 Dentinogenesis imperfecta, Shields type III, 125500 Dentin dysplasia, type II, 125420 -3 Tags
Red List (low evidence)	EP300	2 reviews 1 green	Not set	Sources Expert Review Red NHS GMS Phenotypes Rubinstein-Taybi syndrome 180849 Rubinstein Taybi syndrome Tags
Red List (low evidence)	ESR1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red List (low evidence)	ETF1	2 reviews 1 green	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	FBLIM1	2 reviews	Not set	Sources NHS GMS Phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 Tags
Red List (low evidence)	FGF8	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel. Tags
Red List (low evidence)	FMN1	2 reviews 1 green	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red UKGTN Phenotypes Animal models with skeletal dysplastic phenotypes Tags
Red List (low evidence)	FOXC1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Tags
Red List (low evidence)	FOXH1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	GDF1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	GDF3	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Phenotypes Klippel-Feil anomaly with laryngeal malformation - 613702 Tags
Red List (low evidence)	GLIS2	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	GREM1	3 reviews 1 green 1 red	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red UKGTN Tags
Red List (low evidence)	GUCY2D	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	HDAC5	2 reviews 1 green	Unknown	Sources Expert list Expert Review Red Phenotypes osteoporosis Tags
Red List (low evidence)	HOXA11	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 Tags
Red List (low evidence)	HOXD11	2 reviews	Not set	Sources NHS GMS Tags
Red List (low evidence)	HYLS1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	IDH2	5 reviews 3 green	Other	Sources Expert Review Red NHS GMS Phenotypes D-2-hydroxyglutaric aciduria 2, OMIM:613657 d-2-hydroxyglutaric aciduria 2, MONDO:0013345 Tags somatic
Red List (low evidence)	IFT88	2 reviews 1 green	Unknown	Sources Expert list Expert Review Red UKGTN Tags
Red List (low evidence)	IMPDH1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	INVS	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	IQCB1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	KCNJ13	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	KIAA1217	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes vertebral malformations Tags
Red List (low evidence)	LCA5	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	LEFTY2	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	LOXL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Stickler syndrome Tags
Red List (low evidence)	LRAT	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	LRP6	0 reviews	Not set	Sources Expert Tags
Red List (low evidence)	LTBP2	2 reviews	Not set	Sources NHS GMS Phenotypes Weill-Marchesani Tags
Red List (low evidence)	MAN2C1	2 reviews 1 green	Unknown	Sources Expert list Expert Review Red Phenotypes alpha-Mannosidosis Tags
Red List (low evidence)	MCM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Meier-Gorlin syndrome 8 617564 Tags
Red List (low evidence)	MMP14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Winchester syndrome 277950 Tags
Red List (low evidence)	MTAP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250 Tags
Red List (low evidence)	MYO1H	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 Tags
Red List (low evidence)	MYO7A	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	NEK8	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	NIN	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Seckel syndrome 7 614851 Tags
Red List (low evidence)	NKX2-5	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	NME8	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	NODAL	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	NPHP1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	NPHP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 7 267010 Tags
Red List (low evidence)	NPHP4	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	NPPC	2 reviews 1 green	Unknown	Sources Expert list Expert Review Red Phenotypes Overgrowth syndrome with 2q37 translocations Tags
Red List (low evidence)	OAT	2 reviews 1 green	Not set	Sources Expert Review Red NHS GMS Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia 258870 Tags
Red List (low evidence)	PCDH15	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	PHF6	0 reviews	Not set	Sources Phenotypes Coffin-Siris syndrome Tags
Red List (low evidence)	PIK3CA	2 reviews	Not set	Sources NHS GMS Phenotypes CLOVES 612918 Tags
Red List (low evidence)	PIN1	2 reviews 1 green	Unknown	Sources Expert list Expert Review Red Phenotypes No phenotype associated with this gene Tags
Red List (low evidence)	PIR	1 review	Unknown	Sources Expert Review Red Phenotypes Osteoporosis Tags
Red List (low evidence)	PKD2	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	PKHD1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	PLCB3	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spondylometaphyseal dysplasia with corneal dystrophy OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0030074 Tags
Red List (low evidence)	PLK4	0 reviews	Not set	Sources Phenotypes Microcephalic primordial dwarfism Tags
Red List (low evidence)	PLOD1	0 reviews	Not set	Sources Expert Tags
Red List (low evidence)	PTPRQ	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 Tags
Red List (low evidence)	RAB3GAP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Phenotypes Martsolf syndrome 1, OMIM:212720 Tags
Red List (low evidence)	RD3	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	RDH12	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	RPE65	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	RPGR	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	RPGRIP1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	RSPH4A	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	RSPH9	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	SCNN1A	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	SCNN1B	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	SCNN1G	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	SDCCAG8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Bardet-Biedl syndrome 16, 615993 Tags
Red List (low evidence)	SEM1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes SHFM1 Tags
Red List (low evidence)	SHH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Preaxial polydactyly type 1 (PPD1) Tags
Red List (low evidence)	SLCO5A1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Phenotypes Mesomelia-synostoses syndrome 600383 Mesomelia-synostoses syndrome 600383 Tags deletions
Red List (low evidence)	SMARCA2	0 reviews	Not set	Sources Phenotypes Coffin Siris syndrome Tags
Red List (low evidence)	SMARCA4	0 reviews	Not set	Sources Phenotypes Coffin Siris syndrome Tags
Red List (low evidence)	SMARCB1	0 reviews	Not set	Sources Phenotypes Coffin Siris syndrome Tags
Red List (low evidence)	SMARCE1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Phenotypes Coffin-Siris syndrome 5, OMIM:616938 Tags
Red List (low evidence)	SOX11	0 reviews	Not set	Sources Phenotypes Coffin-Siris syndrome Tags
Red List (low evidence)	SPATA7	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	SPECC1L	2 reviews 1 green	Other - please specifiy in evaluation comments	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Facial clefting, oblique, 1 600251 Opitz GBBB syndrome, type II 145410 Teebi hyperterorism like syndrome 145420 Tags
Red List (low evidence)	SULF1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Red NHS GMS UKGTN Phenotypes Mesomelia-synostoses syndrome 600383 Mesomelia-synostoses syndrome 600383 Tags deletions
Red List (low evidence)	TCTN1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	TDP2	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Dentinogenesis imperfecta, Shields type II, 125490 Tags
Red List (low evidence)	TGDS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Catel-Manzke syndrome 616145 Tags
Red List (low evidence)	THPO	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Thrombocythemia 1 187950 (rare presentation with congenital limb defects) Tags
Red List (low evidence)	TMEM138	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	TMEM237	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	TMEM67	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Phenotypes COACH syndrome 216360 Meckel syndrome 3 607361 Joubert syndrome 6 610688 {Bardet-Biedl syndrome 14, modifier of} 615991 Tags
Red List (low evidence)	TNXB	0 reviews	Not set	Sources Expert Tags
Red List (low evidence)	TOPORS	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	TP53	2 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Central conventional chondrosrcoma Tags somatic
Red List (low evidence)	TRIM32	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Bardet-Biedl syndrome 11, 615988 Polydactyly Tags
Red List (low evidence)	TRMT10A	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Microcephaly, short stature and impaired glucose metabolism, 616033 Tags
Red List (low evidence)	TSC1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	TSC2	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	TULP1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	UMOD	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	USH1C	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	USH1G	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	USH2A	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	USP9X	1 review	Not set	Sources Phenotypes New syndrom with skd Tags
Red List (low evidence)	VAC14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies) Tags
Red List (low evidence)	VHL	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	WHRN	1 review	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	WNT3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Tetra-amelia syndrome 273395 Tags
Red List (low evidence)	WRN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Werner syndrome -277700 Tags
Red List (low evidence)	XPNPEP3	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	XYLT1_GCC STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Desbuquois dysplasia 2, OMIM:615777 Desbuquois dysplasia 2, MONDO:0014343 Tags NGS Not Validated STR
Red List (low evidence)	ZBTB16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Skeletal defects, genital hypoplasia, and mental retardation 612447 Tags
Red List (low evidence)	ZIC3	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red List (low evidence)	ZNF423	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
No list	EFNB1	5 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 Expert list Expert Review Removed NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Craniofrontonasal dysplasia, OMIM:304110 Tags curated_removed
No list	IGF1R	2 reviews 1 green	Not set	Sources Expert Review Removed NHS GMS Tags curated_removed
No list	KAT6A	3 reviews 1 green	Not set	Sources Expert Review Removed NHS GMS Phenotypes Mental retardation, autosomal dominant 32 - 616268 syndromatic cranyosynostosis Tags curated_removed
No list	TCF12	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Removed NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Craniosynostosis 3 615314 Tags curated_removed
No list	TGFBR1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Loeys-Dietz syndrome 1 609192 Loeys-Dietz syndrome 1 609192 Tags curated_removed
No list	TWIST2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ablepharon-macrostomia syndrome 200110 Barber-Say syndrome 209885 Tags curated_removed
No list	ZIC1	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Removed NHS GMS Phenotypes Craniosynostosis 6 616602 Tags curated_removed

Major version comments

2025-04-30 16:33 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 8.0
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 (8.0) following this.

2024-10-30 12:19 Sarah Leigh (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 16:31 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 12:35 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 14:45 Eleanor Williams (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 13:50 Catherine Snow (Genomics England) 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

2019-12-12 21:14 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.343) was signed off under NHS Genomic Medicine Service governance on 12th Dec 2019. The panel was promoted to the next major version (version 2.0) as a result of this.

Promoted to version 1 9th August 2016

Skeletal dysplasia (Version 8.34)

36 reviewers

643 Entities

553 reviewed, 442 green

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