Skeletal dysplasia (Version 0.285)

Description

This Genomics England/NHS GMS panel has been imported for use and further development by VCGS.

Panel Activity

36 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Belinda Chong (Victorian Clinical Genetics Services)
Natalie Tan (Victorian Clinical Genetics Services)
Chris Richmond (Genetic Health Queensland)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Paul De Fazio (Victorian Clinical Genetics Services)
Arina Puzriakova (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Abhijit Kulkarni (Healius Pathology)
Danielle Ariti (University of Melbourne)
Belinda Chong (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Sarah Leigh (Genomics England)
Teresa Zhao (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Achchuthan Shanmugasundram (Genomics England)
Ain Roesley (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Paul De Fazio (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Daniel Flanagan (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)

605 Entities

579 reviewed, 449 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 605 Entitiess
Green Green List (high evidence)	ABCC9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome) Hypertrichotic osteochondrodysplasia 239850 Tags
Green Green List (high evidence)	ABL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Congenital heart defects and skeletal malformations syndrome, 617602 Tags
Green Green List (high evidence)	ACAN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Spondyloepiphyseal dysplasia, Kimberley type 608361 Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800 Spondyloepimetaphyseal dysplasia, aggrecan type 61283 Tags
Green Green List (high evidence)	ACP5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondyloenchondrodysplasia with immune dysregulation 607944 Tags
Green Green List (high evidence)	ACVR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Fibrodysplasia ossificans progressiva 135100 Tags clinical trial
Green Green List (high evidence)	ADAMTS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Weill-Marchesani syndrome 1, recessive, 277600 Tags
Green Green List (high evidence)	ADAMTS17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Weill-Marchesani syndrome type 4 Tags
Green Green List (high evidence)	ADAMTSL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Geleophysic dysplasia 1 231050 Tags
Green Green List (high evidence)	AFF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes KINSSHIP syndrome, MIM# 619297 Tags
Green Green List (high evidence)	AFF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes CHOPS syndrome MIM#616368 Tags
Green Green List (high evidence)	AGA	1 review 1 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 Victorian Clinical Genetics Services 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 Green List (high evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121 Rhizomelic chondrodysplasia punctata, type 3 600121 Tags
Green Green List (high evidence)	ALG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ig 607143 Tags
Green Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Id 601110 Tags
Green Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Gillessen-Kaesbach-Nishimura syndrome 263210 Congenital disorder of glycosylation, type Il 608776 Gillessen-Kaesbach-Nishimura syndrome 263210 Tags
Green Green List (high evidence)	ALPL	3 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, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags treatable
Green Green List (high evidence)	ALX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Frontonasal dysplasia 3 613456 Frontonasal dysplasia type 3 613456 Tags
Green Green List (high evidence)	ALX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Frontonasal dysplasia 1 136760 Frontonasal dysplasia 1 136760 (frontorhiny) Tags
Green Green List (high evidence)	ALX4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Frontonasal dysplasia 2 613451 Tags
Green Green List (high evidence)	AMER1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Osteopathia striata with cranial sclerosis 300373 Osteopathia striata with cranial sclerosis 300373 Tags
Green Green List (high evidence)	ANKH	1 review 1 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 Green List (high evidence)	ANKRD11	1 review 1 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 Green List (high evidence)	ANO5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Disproportionate Short Stature Osteogenesis Imperfecta and Decreased Bone Density Gnatodiaphyseal dysplasia skeletal dysplasias Tags
Green Green List (high evidence)	ANTXR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Hyaline fibromatosis syndrome 228600 Tags
Green Green List (high evidence)	ARHGAP31	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Genetic Health Queensland Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 1 100300 Tags
Green Green List (high evidence)	ARID1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Coffin-Siris Tags
Green Green List (high evidence)	ARID1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Coffin-Siris syndrome type 1 - 135900 Coffin-Siris Tags
Green Green List (high evidence)	ARL6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 3 600151 Tags
Green Green List (high evidence)	ARSB	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 MONDO:0009661 Tags clinical trial treatable
Green Green List (high evidence)	ARSE	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED X-linked recessive chondrodysplasia punctata Chondrodysplasia punctata, X-linked recessive, 302950 CDPXL Tags
Green Green List (high evidence)	ARSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mucopolysaccharidosis MONDO:0019249, ARSK-related Tags
Green Green List (high evidence)	ASXL1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Bohring-Opitz syndrome 605039 Tags
Green Green List (high evidence)	ASXL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Shashi-Pena syndrome 617190 Shashi-Pena syndrome 617190 Tags
Green Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IIA 219200 Cutis laxa, autosomal recessive, type IIA 219200 Tags
Green Green List (high evidence)	ATP7A	3 reviews 3 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 Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, 300489 Menkes disease 309400 Occipital horn syndrome 304150 Tags
Green Green List (high evidence)	AXIN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 Tags
Green Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 Tags
Green Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Larsen alike phenotype (skd incl) Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 Tags
Green Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services 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 Green List (high evidence)	B4GALT7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070 Tags
Green Green List (high evidence)	BBS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 1 209900 Tags
Green Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet Biedl syndrome 10, 615987 Polydactyly Tags
Green Green List (high evidence)	BBS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet Biedl syndrome 12, 615989 Polydactyly Tags
Green Green List (high evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 2, 615981 Tags
Green Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 4, 615982 Polydactyly Tags
Green Green List (high evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet Biedl syndrome 5, 615983 Tags
Green Green List (high evidence)	BBS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 7, 615984 Polydactyly Tags
Green Green List (high evidence)	BBS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet Biedl syndrome 9, 615986 Tags
Green Green List (high evidence)	BGN	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, X-linked - MIM# 300106 Tags
Green Green List (high evidence)	BHLHA9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432 Tags
Green Green List (high evidence)	BMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XIII, 614856 Tags
Green Green List (high evidence)	BMP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes {HFE hemochromatosis, modifier of} 235200 short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877. Brachydactyly, type A2 112600 Tags
Green Green List (high evidence)	BMPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Diaphanospondylodysostosis 608022 Tags
Green Green List (high evidence)	BMPR1B	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Brachydactyly, type A1, D 616849 Acromesomelic dysplasia, Demirhan type 609441 Brachydactyly, type A2 112600 Tags
Green Green List (high evidence)	C21orf2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Axial Spondylometaphyseal Dysplasia 602271 Spondylometaphyseal dysplasia, axial 602271 Tags
Green Green List (high evidence)	C2CD3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XIV 615948 Tags
Green Green List (high evidence)	CA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 Tags
Green Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes multiple epiphyseal dysplasia type 7, 617719. Desbuquois dysplasia 1 251450 Tags
Green Green List (high evidence)	CASR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Hypocalcemia, autosomal dominant, with Bartter syndrome 601198 Hypocalcemia, autosomal dominant 601198 Hyperparathyroidism, neonatal 239200 Hypocalciuric hypercalcemia, type I 145980 Tags
Green Green List (high evidence)	CBFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes cleidocranial dysplasia (MONDO#0007340), CBFB-related Tags
Green Green List (high evidence)	CC2D2A	2 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 Victorian Clinical Genetics Services Phenotypes Meckel syndrome 6 612284 Tags
Green Green List (high evidence)	CCDC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 3-M syndrome 3, 614205 Tags
Green Green List (high evidence)	CDC45	1 review 1 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 Green List (high evidence)	CDH3	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 Tags
Green Green List (high evidence)	CDKN1C	1 review 1 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 Victorian Clinical Genetics Services Phenotypes IMAGE syndrome 614732 Tags
Green Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 4 613804 Tags
Green Green List (high evidence)	CEP120	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes Joubert syndrome 213300 Short-rib thoracic dysplasia 13 with or without polydactyly 616300 Tags
Green Green List (high evidence)	CEP290	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 14 615991 Leber congenital amaurosis 10 Joubert syndrome 5 610188 Meckel syndrome 4 611134 Senior-Loken syndrome 6 610189 Tags
Green Green List (high evidence)	CHST14	1 review 1 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 Green List (high evidence)	CHST3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 Tags
Green Green List (high evidence)	CHSY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Temtamy preaxial brachydactyly syndrome 605282 Tags
Green Green List (high evidence)	CLCN5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Nephrolithiasis, type I 310468 Dent disease 300009 Hypophosphatemic rickets 300554 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 Tags
Green Green List (high evidence)	CLCN7	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 4 611490 Osteopetrosis, autosomal dominant 2 166600 Tags treatable
Green Green List (high evidence)	COG1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIg 611209 Tags
Green Green List (high evidence)	COG4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Saul-Wilson syndrome, OMIM #618150 Tags
Green Green List (high evidence)	COL10A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 Tags
Green Green List (high evidence)	COL11A1	1 review 1 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 604841 Fibrochondrogenesis 1 228520 Marshall syndrome 154780 Tags
Green Green List (high evidence)	COL11A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fibrochondrogenesis 2 614524? Otospondylomegaepiphyseal dysplasia 215150 Fibrochondrogenesis 2 614524 Weissenbacher-Zweymuller syndrome 277610 Stickler syndrome, type III 184840 Tags
Green Green List (high evidence)	COL1A1	1 review 1 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, type VIIA 130060 Osteogenesis imperfecta, type III 259420 Osteogenesis imperfecta, type I 166200 Osteogenesis imperfecta, type IV 166220 Ehlers-Danlos syndrome, classic 130000 Caffey disease 114000 Osteogenesis imperfecta, type II 166210 Tags
Green Green List (high evidence)	COL1A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 III 259420 Osteogenesis imperfecta, type IV 166220 Ehlers-Danlos syndrome, type VIIB 130060 Ehlers-Danlos syndrome, cardiac valvular form 225320 Osteogenesis imperfecta, type II 166210 Tags
Green Green List (high evidence)	COL27A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes OMIM #615155 Steel Syndrome Tags
Green Green List (high evidence)	COL2A1	1 review 1 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 Osteoarthritis with mild chondrodysplasia 604864 Czech dysplasia 609162 SMED Strudwick type 184250 Spondyloepiphyseal dysplasia, Stanescu type 616583 Epiphyseal dysplasia, multiple, with myopia and deafness 132450 SED congenita 183900 Otospondylomegaepiphyseal dysplasia 215150 Stickler syndrome, type I 108300 Stickler sydrome, type I, nonsyndromic ocular 609508 Kniest dysplasia 156550 Platyspondylic skeletal dysplasia, Torrance type 151210 Spondyloperipheral dysplasia 271700 Achondrogenesis, type II or hypochondrogenesis 200610 Legg-Calve-Perthes disease 150600 Avascular necrosis of the femoral head 608805 Tags
Green Green List (high evidence)	COL9A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 614134 Epiphyseal dysplasia, multiple, 6 614135 Tags
Green Green List (high evidence)	COL9A2	1 review 1 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, 614284 Epiphyseal dysplasia, multiple, 2 600204 Stickler syndrome, type V 614284 {Intervertebral disc disease, susceptibility to}, 603932 Tags
Green Green List (high evidence)	COL9A3	3 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 Victorian Clinical Genetics Services Phenotypes MED Mutiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia, Dominant Epiphyseal dysplasia, multiple, with myopathy Stickler syndrome type VI multiple epiphyseal dysplasia multiple epiphyseal dysplasia 3, with or without myopathy - 600969 Tags
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes 3MC syndrome 2 265050 Tags
Green Green List (high evidence)	COMP	1 review 1 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 132400 Pseudoachondroplasia 177170 Tags
Green Green List (high evidence)	CREB3L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Osteogenesis imperfecta, type XVI 616229 Tags
Green Green List (high evidence)	CREBBP	1 review 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 Victorian Clinical Genetics Services Phenotypes Rubinstein-Taybi syndrome 180849 Rubinstein-Taybi syndrome 180849 Tags
Green Green List (high evidence)	CRTAP	1 review 1 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 Green List (high evidence)	CSGALNACT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Phenotypes ORPHA:475 Joubert syndrome Joubert syndrome 21 615636 ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome 21 615636 ORPHA:564 Meckel syndrome Tags
Green Green List (high evidence)	CTSA	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Galactosialidosis 256540 Tags
Green Green List (high evidence)	CTSC	2 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 Green List (high evidence)	CTSK	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Pycnodysostosis 265800 Tags
Green Green List (high evidence)	CUL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-M syndrome 1, MIM# 273750 Yakut short stature syndrome Tags
Green Green List (high evidence)	CYP26B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416 Tags
Green Green List (high evidence)	CYP27B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Vitamin D-dependent rickets, type I 264700 Tags
Green 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 Green List (high evidence)	DCC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM# 617542 Tags
Green Green List (high evidence)	DDR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type 271665 Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported Tags
Green Green List (high evidence)	DDRGK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557 Tags founder
Green Green List (high evidence)	DHCR24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Desmosterolosis 602398 Tags
Green Green List (high evidence)	DHCR7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome 270400 Tags
Green Green List (high evidence)	DHODH	2 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 Victorian Clinical Genetics Services Phenotypes Miller syndrome (postaxial acrofacial dysostosis) 263750 Tags
Green Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Perlman syndrome 267000 Tags
Green Green List (high evidence)	DLL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 1, autosomal recessive 277300 Tags
Green Green List (high evidence)	DLL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 6, 616589 Tags
Green Green List (high evidence)	DLX3	1 review 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 Trichodontoosseous syndrome 190320 Amelogenesis imperfecta, type IV 104510 Tags
Green Green List (high evidence)	DLX5	1 review 1 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 220600 Tags
Green Green List (high evidence)	DMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Acromesomelic dysplasia, Hunter-Thompson type, 201250 Symphalangism, proximal, 1B, 615298 Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1) Brachydactyly, type A1, C, 615072 Brachydactyly, type A2, 112600 Du Pan syndrome, 228900 Hypophosphatemic rickets, AR, 241520 Osteogenesis Imperfecta and Decreased Bone Density Chondrodysplasia, Grebe type, 200700 skeletal dysplasias Brachydactyly, type C, 113100 {Osteoarthritis-5}, 612400 Multiple synostoses syndrome 2, 610017 Tags
Green Green List (high evidence)	DNAJC21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 617052 BONE MARROW FAILURE SYNDROME 3 BMFS3 Tags
Green Green List (high evidence)	DNMT3A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Tatton-Brown-Rahman syndrome 615879 Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 2 614219 Adams-Oliver syndrome 2 614219 Tags
Green Green List (high evidence)	DONSON	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly, short stature, and limb abnormalities, MIM# 617604 Microcephaly-micromelia syndrome, MIM# 251230 Tags
Green Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates 614750 UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ij 608093 Tags
Green Green List (high evidence)	DPM1	1 review 1 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 608799 Tags
Green Green List (high evidence)	DSPP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dentin dysplasia, type II, 125420 -3 Dentinogenesis imperfecta, Shields type III, 125500 Dentinogenesis imperfecta, Shields type II, 125490 Deafness, autosomal dominant 36, with dentinogenesis, 605594 Tags
Green Green List (high evidence)	DVL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Robinow syndrome, autosomal dominant 2, MIM# 616331 Tags
Green Green List (high evidence)	DVL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal dominant 3, 616894 Tags
Green Green List (high evidence)	DYM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Smith-McCort dysplasia 607326 Dyggve-Melchior-Clausen disease 223800 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091 Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087 Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff) Tags
Green Green List (high evidence)	DYNC2LI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Phenotypes SRTD15 #617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY Tags
Green Green List (high evidence)	EBP	2 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 Victorian Clinical Genetics Services Phenotypes MEND syndrome CDPXLD MEND syndrome-300960 XLR. X-linked dominant chondrodysplasia punctata Chondrodysplasia punctata, X-linked dominant, 302960 Tags
Green Green List (high evidence)	EED	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Cohen-Gibson syndrome 617561 Cohen-Gibson syndrome 617561 Tags
Green Green List (high evidence)	EFL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 617941 SHWACHMAN-DIAMOND SYNDROME 2 SDS2 Tags
Green Green List (high evidence)	EFTUD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 Tags
Green Green List (high evidence)	EIF2AK3	1 review 1 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 Green List (high evidence)	EN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ENDOVE syndrome, limb-only type, MIM# 619217 ENDOVE syndrome, limb-brain type, MIM# 619218 Tags 5'UTR SV/CNV
Green Green List (high evidence)	ENPP1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Cole disease 615522 Arterial calcification, generalized, of infancy, 1 208000 Hypophosphatemic rickets, autosomal recessive, 2 613312 Tags
Green Green List (high evidence)	EOGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes Adams Oliver syndrome 4 Tags
Green Green List (high evidence)	ERF	1 review 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 Victorian Clinical Genetics Services Phenotypes Craniosynostosis 4 600775 Chitayat syndrome - 617180 Tags
Green Green List (high evidence)	ERI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663 Tags
Green Green List (high evidence)	ESCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes SC phocomelia syndrome 269000 Roberts syndrome 268300 Tags
Green Green List (high evidence)	EVC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Ellis-van Creveld syndrome, 225500 ECV1 Ellis-van Creveld Syndrome Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530 Tags
Green Green List (high evidence)	EVC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Ellis-van Creveld syndrome 225500 Weyers acrofacial dysostosis 193530 Tags
Green Green List (high evidence)	EXOC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675 Tags
Green Green List (high evidence)	EXT1	1 review 1 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 13370 Exostoses, multiple, type 1 133700 Tags
Green Green List (high evidence)	EXT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Exostoses, multiple, type 2 133701 Tags
Green Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 Tags
Green Green List (high evidence)	EZH2	2 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 Victorian Clinical Genetics Services Phenotypes Weaver syndrome Tags
Green Green List (high evidence)	FAM111A	1 review 1 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 Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Raine syndrome 259775 Tags
Green Green List (high evidence)	FAM46A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Osteogenesis imperfecta, type XVIII 617952 Tags
Green Green List (high evidence)	FAM58A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes STAR syndrome 300707 STAR syndrome 300707 Tags
Green Green List (high evidence)	FBN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Stiff skin syndrome 184900 Marfan syndrome 154700 Geleophysic dysplasia 2 614185 Weill-Marchesani syndrome 2, dominant 608328 Acromicric dysplasia 102370 Tags
Green Green List (high evidence)	FBN2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Contractural arachnodactyly, congenital 121050 Tags
Green Green List (high evidence)	FERMT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes (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. Leukocyte adhesion deficiency, type III 612840 Tags
Green Green List (high evidence)	FGF10	1 review 1 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 Green List (high evidence)	FGF16	1 review 1 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 Green List (high evidence)	FGF23	1 review 1 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 Osteomalacia, tumor-induced Tumoral calcinosis, hyperphosphatemic, familial 211900 Hypophosphatemic rickets, autosomal dominant 193100 Tags
Green Green List (high evidence)	FGF9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Multiple synostoses syndrome type 3 612961 Tags
Green Green List (high evidence)	FGFR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia 147950 Hartsfield syndrome 615465 Osteoglophonic dysplasia 166250 Pfeiffer syndrome 101600 Encephalocraniocutaneous lipomatosis, somatic mosaism 613001 Jackson-Weiss syndrome 123150 Trigonocephaly 1 190440 Tags
Green Green List (high evidence)	FGFR2	1 review 1 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 Craniosynostosis, nonspecific Crouzon syndrome 123500 Pfeiffer syndrome 101600 Beare-Stevenson cutis gyrata syndrome 123790 Apert syndrome 101200 Gastric cancer, somatic 613659 Craniofacial-skeletal-dermatologic dysplasia 101600 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Bent bone dysplasia syndrome 614592 Jackson-Weiss syndrome 123150 LADD syndrome 149730 Tags
Green Green List (high evidence)	FGFR3	1 review 1 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 Crouzon syndrome with acanthosis nigricans 612247 Thanatophoric dysplasia, type II 187601 Thanatophoric dysplasia, type I 187600 SADDAN 616482 LADD syndrome 149730 Achondroplasia 100800 Hypochondroplasia 146000 Muenke syndrome 602849 CATSHL syndrome 610474 Tags
Green Green List (high evidence)	FIG4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Yunis-Varon syndrome 216340 Yunis-Varon syndrome 216340 Amyotrophic lateral sclerosis 11 612577 Tags
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XI, 610968 Brucks syndrome 1 - 259450 Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias Osteogenesis Imperfecta, Recessive Brucks syndrome Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Frontometaphyseal dysplasia 305620 Otopalatodigital syndrome, type II -304120 Osteodysplasty Melnick Needles 309350 XLD Melnick Needles syndrome 309350 Otopalatodigital syndrome, type II 304120 XLD Frontometaphyseal dysplasia 305620 XLR Terminal osseous dysplasia 300244 Otopalatodigital syndrome, type I -311300 Tags
Green Green List (high evidence)	FLNB	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Atelosteogenesis, type I 108720 Spondylocarpotarsal synostosis syndrome 272460 Larsen syndrome 150250 Boomerang dysplasia 112310 Atelosteogenesis, type III 108721 Tags
Green Green List (high evidence)	FN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Spondylometaphyseal dysplasia, corner fracture type 184255 Tags
Green Green List (high evidence)	FUCA1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Fucosidosis 230000 Tags
Green Green List (high evidence)	FUZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliopathy_MONDO_0005308, FUZ-related skeletal ciliopathy Tags
Green Green List (high evidence)	FZD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Autosomal dominant omodysplasia type 2 164745 Autosomal dominant omodysplasia 164745 Tags
Green Green List (high evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis IVA, MIM# 253000 MONDO:0009659 Tags treatable
Green Green List (high evidence)	GALNT3	1 review 1 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 Green List (high evidence)	GDF5	3 reviews 2 green 1 red	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 Victorian Clinical Genetics Services Phenotypes Chondrodysplasia, Grebe type 200700 Multiple synostoses syndrome 2 610017 Du Pan syndrome 228900 Acromesomelic dysplasia, Hunter-Thompson type 201250 Brachydactyly, type C 113100 Brachydactyly, type A1, C 615072 Symphalangism, proximal, 1B 615298 {Osteoarthritis-5} 612400 Brachydactyly, type A2 112600 Tags
Green Green List (high evidence)	GDF6	3 reviews 2 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 Victorian Clinical Genetics Services Phenotypes Klippel-Feil syndrome 1, autosomal dominant 118100 Multiple synostoses syndrome type 4 - 617898. Tags
Green Green List (high evidence)	GHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes increased responsiveness to growth hormone 604271 {Hypercholesterolemia, familial, modification of}, 143890 Short stature, 604271 Proportionate Short Stature/Small for Gestational Age Growth hormone insensitivity Increased responsiveness to growth hormone Laron dwarfism, 262500 Tags
Green Green List (high evidence)	GINS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Meier-Gorlin syndrome, MONDO:0016817, GINS3-related Tags
Green Green List (high evidence)	GJA1	1 review 1 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 Oculodentodigital dysplasia 164200 Erythrokeratodermia variabilis et progressiva 133200 Palmoplantar keratoderma with congenital alopecia 104100 Hypoplastic left heart syndrome 1 241550 Oculodentodigital dysplasia, autosomal recessive 257850 Craniometaphyseal dysplasia, autosomal recessive 218400 Syndactyly, type III 186100 Tags
Green Green List (high evidence)	GLB1	1 review 1 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 III 230650 Mucopolysaccharidosis type IVB (Morquio) 253010 GM1-gangliosidosis, type I 230500 Tags
Green Green List (high evidence)	GLI3	3 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 Victorian Clinical Genetics Services Phenotypes {Hypothalamic hamartomas, somatic} 241800 Polydactyly, postaxial, types A1 and B 174200 Greig cephalopolysyndactyly syndrome 175700 Pallister-Hall syndrome 146510 Polydactyly, preaxial, type IV 174700 Tags
Green Green List (high evidence)	GNAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Pseudohypoparathyroidism Ia 103580 ACTH-independent macronodular adrenal hyperplasia 219080 IC Pseudohypoparathyroidism Ib 603233 Pseudopseudohypoparathyroidism 612463 McCune-Albright syndrome, somatic, mosaic 174800 Pseudohypoparathyroidism Ic 612462 Osseous heteroplasia, progressive 166350 Tags
Green Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes RCDP2 Rhizomelic Chondrodysplasia Punctata Rhizomelic chondrodysplasia punctata type 2 Chondrodysplasia punctata, rhizomelic, type 2, 222765 Tags
Green Green List (high evidence)	GNPTAB	2 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 Victorian Clinical Genetics Services Phenotypes Mucolipidosis III alpha/beta 252600 Mucolipidosis II alpha/beta 252500 Tags
Green Green List (high evidence)	GNPTG	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Mucolipidosis III gamma 252605 Tags
Green Green List (high evidence)	GNS	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIID 252940 Tags
Green Green List (high evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Geroderma osteodysplasticum 231070 Tags
Green Green List (high evidence)	GPC6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Omodysplasia 1 MIM#258315 Tags SV/CNV
Green Green List (high evidence)	GPX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220 Tags
Green Green List (high evidence)	GSC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471 Tags
Green Green List (high evidence)	GUSB	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis VII 253220 Tags
Green Green List (high evidence)	GZF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Joint laxity, short stature, and myopia, MIM# 617662 Larsen-like syndrome Tags
Green Green List (high evidence)	HDAC8	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 5 300882 Wilson-Turner syndrome 309585 Tags
Green Green List (high evidence)	HES7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 4, autosomal recessive 613686 Tags
Green Green List (high evidence)	HGSNAT	2 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 Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 Tags
Green Green List (high evidence)	HHAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nivelon-Nivelon-Mabille syndrome 600092 Tags
Green Green List (high evidence)	HOXA13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Guttmacher syndrome 176305 Hand-foot-uterus syndrome 140000 Hand-foot-genital syndrome 140000 Tags
Green Green List (high evidence)	HOXD13	1 review 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 Victorian Clinical Genetics Services Phenotypes Brachydactyly, type E 113300 Brachydactyly, type D 113200 Syndactyly, type V 186300 Synpolydactyly 1 186000 Brachydactyly-syndactyly syndrome 610713 Tags
Green Green List (high evidence)	HPGD	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Digital clubbing, isolated congenital 119900 Cranioosteoarthropathy 259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 Tags
Green Green List (high evidence)	HSPG2	3 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 Victorian Clinical Genetics Services Phenotypes Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139) Dyssegmental dysplasia, Silverman-Handmaker type 224410 Schwartz-Jampel syndrome, type 1 255800 Tags
Green Green List (high evidence)	ICK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Endocrine-cerebroosteodysplasia 612651 Tags
Green Green List (high evidence)	IDH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Ollier disease/ Dyschondroplasia 166000 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875 Maffucci syndrome 614569 Tags
Green Green List (high evidence)	IDS	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis II 309900 Tags
Green Green List (high evidence)	IDUA	2 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 Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis Is 607016 Mucopolysaccharidosis Ih/s 607015 Mucopolysaccharidosis Ih 607014 Tags
Green Green List (high evidence)	IFIH1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Singleton-Merten syndrome 1, 182250 Tags
Green Green List (high evidence)	IFITM5	2 reviews 1 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 MIM#610967 Tags 5'UTR
Green Green List (high evidence)	IFT122	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Cranioectodermal dysplasia 1 218330 Tags
Green Green List (high evidence)	IFT140	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 Tags
Green Green List (high evidence)	IFT172	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 SRTD10 Tags
Green Green List (high evidence)	IFT43	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 18 with polydactyly - 617866 ?Cranioectodermal dysplasia 3 - 614099 Tags
Green Green List (high evidence)	IFT52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Phenotypes SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102 Tags
Green Green List (high evidence)	IFT74	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Jeune syndrome (MONDO:0018770), IFT74-related Tags
Green Green List (high evidence)	IFT80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly 611263 Tags
Green Green List (high evidence)	IHH	1 review 1 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 607778 Brachydactyly, type A1 112500 Tags
Green Green List (high evidence)	IKBKG	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 Incontinentia pigmenti 308300 Tags
Green Green List (high evidence)	IL11RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Craniosynostosis and dental anomalies 614188 Tags
Green Green List (high evidence)	IL1RN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes Interleukin 1 receptor antagonist deficiency 612852 Interleukin 1 receptor antagonist deficiency 612852 Tags
Green Green List (high evidence)	IMPAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Chondrodysplasia with joint dislocations, GPAPP type 614078 Tags
Green Green List (high evidence)	INPPL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Opsismodysplasia 258480 Tags
Green Green List (high evidence)	2q37.3 terminal region (includes HDAC4) Loss ISCA-37394-Loss Region	0 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 Green List (high evidence)	16p13.3 region (includes CREBBP) Loss ISCA-37406-Loss Region	0 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 Green List (high evidence)	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss ISCA-37418-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes Potocki-Lupski syndrome Smith-Magenis syndrome moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems 182290 Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies Dental abnormalities hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders Tags
Green Green List (high evidence)	1p36 terminal region (includes GABRD) Loss ISCA-37434-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes microcephaly 1p36 deletion syndrome large anterior fontanels large, late-closing anterior fontanel deep-set eyes central nervous system anomalies pointed chin heart defects poor/absent speech hypotonia brachycephaly hearing impairment 607872 growth impairment flat nose nasal bridge mental retardation seizures epicanthus microbrachycephaly posteriorly rotated, low-set, abnormal ears developmental delay distinct dysmorphic features Tags
Green Green List (high evidence)	11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss ISCA-37441-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Phenotypes parietal foramina mental retardation intellectual disability ophthalmologic anomalies Potocki-Shaffer syndrome myopia biparietal foramina enlarged anterior fontanel minor craniofacial anomalies genital abnormalities in males developmental delay multiple exostoses strabismus 601224 Tags
Green Green List (high evidence)	17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss ISCA-37501-Loss Region	0 reviews	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 Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes SBBYSS syndrome 603736 GTPTS,Ohdo Genitopatellar syndrome 606170 Tags
Green Green List (high evidence)	KCNJ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Andersen syndrome MIM#170390 Tags
Green Green List (high evidence)	KIAA0586	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 23 MIM#616490 Short-rib thoracic dysplasia 14 with polydactyly MIM#616546 Tags
Green Green List (high evidence)	KIAA0753	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Victorian Clinical Genetics Services Phenotypes ?Orofaciodigital syndrome XV 617127 Joubert syndrome 38, MIM# 619476 Short-rib skeletal dysplasia Tags
Green Green List (high evidence)	KIF22	2 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 Victorian Clinical Genetics Services Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 Tags
Green Green List (high evidence)	KIF5B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Skeletal dysplasia, MONDO:0018230, KIF5B-related Kyphomelic dysplasia Tags
Green Green List (high evidence)	KIF7	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Hydrolethalus syndrome 2 614120 Acrocallosal syndrome 200990 Joubert syndrome 12 200990 Al-Gazali-Bakalinova syndrome 607131 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Kabuki syndrome 1 - 147920 Tags
Green Green List (high evidence)	LBR	2 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 Victorian Clinical Genetics Services Phenotypes Pelger-Huet anomaly with mild skeletal anomalies 618019 Greenberg skeletal dysplasia 215140 Pelger-Huet anomaly 169400 Tags
Green Green List (high evidence)	LEMD3	1 review 1 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 Green List (high evidence)	LFNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 3, autosomal recessive MIM#609813 Tags
Green Green List (high evidence)	LIFR	2 reviews 1 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 Victorian Clinical Genetics Services Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 Tags
Green Green List (high evidence)	LMBR1	1 review 1 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 Triphalangeal thumb, type I 174500 Syndactyly, type IV 186200 Acheiropody 200500 Triphalangeal thumb-polysyndactyly syndrome 174500 Hypoplastic or aplastic tibia with polydactyly 188740 Tags
Green Green List (high evidence)	LMNA	0 reviews	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 Foundation Trust) Mandibuloacral dysplasia 248370 Muscular dystrophy, limb-girdle, type 1B 159001 Malouf syndrome 212112 616516 Cardiomyopathy, dilated, 1A 115200 Lipodystrophy, familial partial, 2 151660 Emery-Dreifuss muscular dystrophy 3, 616516 Charcot-Marie-Tooth disease, type 2B1 605588 Mandibuloacral dysplasia 248370 Restrictive dermopathy, lethal 275210 Hutchinson-Gilford progeria 176670 Muscular dystrophy, congenital 613205 Tags
Green Green List (high evidence)	LMX1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Nail-patella syndrome 161200 Nail-patella syndrome 161200 Tags
Green Green List (high evidence)	LONP1	1 review 1 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 Green List (high evidence)	LPIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 Tags
Green Green List (high evidence)	LRP4	2 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 Victorian Clinical Genetics Services Phenotypes Sclerosteosis 2 614305 Cenani-Lenz syndactyly syndrome 212780 Tags
Green Green List (high evidence)	LRP5	1 review 1 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 Osteoporosis-pseudoglioma syndrome 259770 [Bone mineral density variability 1] 601884 {Osteoporosis} 166710 van Buchem disease, type 2 607636 Osteopetrosis, autosomal dominant 1 607634 Hyperostosis, endosteal 144750 Osteosclerosis 144750 Tags
Green Green List (high evidence)	LRRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198) Tags
Green Green List (high evidence)	LTBP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Dental anomalies and short stature 610216 Geleophysic dysplasia 3 617809 Geleophysic dysplasia 3 617809 Tags
Green Green List (high evidence)	MAB21L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 Tags
Green Green List (high evidence)	MAFB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Multicentric carpotarsal osteolysis syndrome 166300 Tags
Green Green List (high evidence)	MAN2B1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Mannosidosis, alpha-, types I and II 248500 Tags
Green Green List (high evidence)	MAP3K7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Frontometaphyseal dysplasia 2, 617137 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 3MC syndrome 1 - 257920 Tags
Green Green List (high evidence)	MATN3	1 review 1 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, Dominant Disproportionate Short Stature Spondyloepimetaphyseal dysplasia, 608728 Epiphyseal dysplasia, multiple, 5, 607078 {Osteoarthritis susceptibility 2}, 140600 multiple epiphyseal dysplasia Tags
Green Green List (high evidence)	MBTPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Skeletal dysplasia Tags
Green Green List (high evidence)	MECOM	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738 Radioulnar synostosis without hematological aberration, no OMIM # Tags
Green Green List (high evidence)	MEGF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Carpenter syndrome 2 614976 Tags
Green Green List (high evidence)	MEOX1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Klippel-Feil syndrome 2 214300 Tags
Green Green List (high evidence)	MESD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Osteogenesis imperfecta, type XX, MIM# 618644 Tags
Green Green List (high evidence)	MESP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 2, autosomal recessive 608681 Tags
Green Green List (high evidence)	MGP	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Keutel syndrome 245150 skeletal dysplasia MONDO:0018230, MGP-related Tags
Green Green List (high evidence)	MIR140	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618 Tags
Green Green List (high evidence)	MIR17HG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes FS2 Microcephaly-oculo-digito-esophageal-duodenal syndrome Brachydactyly with short stature and microcephaly Feingold syndrome 2, 614326 Tags
Green Green List (high evidence)	MKKS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6, 605231 Polydactyly McKusick-Kaufman syndrome, 236700 Tags
Green Green List (high evidence)	MKS1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Meckel syndrome 1 249000 Bardet-Biedl syndrome 13 615990 Tags
Green Green List (high evidence)	MMP13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Metaphyseal anadysplasia 1 602111 Spondyloepimetaphyseal dysplasia, Missouri type 602111 Metaphyseal dysplasia, Spahr type - 250400 Tags
Green Green List (high evidence)	MMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Multicentric osteolysis, nodulosis, and arthropathy 259600 Tags
Green Green List (high evidence)	MMP9	1 review 1 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 Victorian Clinical Genetics Services Phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 Metaphyseal anadysplasia 2 613073 Tags
Green Green List (high evidence)	MNX1	1 review 1 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 Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green Green List (high evidence)	MSX2	1 review 1 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 Parietal foramina 1 168500 Parietal foramina with cleidocranial dysplasia 168550 Craniosynostosis, type 2 604757 Tags
Green Green List (high evidence)	MTX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mandibuloacral dysplasia progeroid syndrome, MIM# 619127 Mandibuloacral dysplasia lipodystrophy arterial calcification Tags
Green Green List (high evidence)	MYCN	2 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 Green List (high evidence)	NAGLU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Royal Melbourne Hospital UKGTN Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 Tags
Green Green List (high evidence)	NANS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 Tags
Green Green List (high evidence)	NBAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Tags
Green Green List (high evidence)	NEK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short rib thoracic dysplasia 6 with or without polydactyly - 263520 Short rib-polydactyly syndrome, type IIA, 263520 Short Rib Polydactyly Syndrome SRPS type 2 (Majewski) Tags
Green Green List (high evidence)	NEPRO	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Anauxetic dysplasia 3, MIM618853 Tags
Green Green List (high evidence)	NEU1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Sialidosis, type I 256550 Sialidosis, type II 256550 Tags
Green Green List (high evidence)	NF1	1 review 1 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-Noonan syndrome 601321 Neurofibromatosis, type 1 162200 Neurofibromatosis, type 1 162200 Neurofibromatosis, familial spinal 162210 Neurofibromatosis-Noonan syndrome 601321 Neurofibromatosis, familial spinal 162210 Tags
Green Green List (high evidence)	NFIX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Marshall-Smith syndrome 602535 Sotos syndrome 2 614753 Tags
Green Green List (high evidence)	NIPBL	1 review 1 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 Green List (high evidence)	NKX3-2	1 review 1 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 Green List (high evidence)	NLRP3	1 review 1 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 Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115 CINCA (Infantile-onset multisystem inflammatory disease) 607115 Tags
Green Green List (high evidence)	NOG	1 review 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 Tarsal-carpal coalition syndrome 186570 Stapes ankylosis with broad thumb and toes 184460 Brachydactyly, type B2 611377 Symphalangism, proximal, 1A 185800 Multiple synostoses syndrome 1 186500 Tags
Green Green List (high evidence)	NOTCH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Phenotypes Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly) Limb, scalp and skull defects Adams-Oliver syndrome 5, 616028 AOS Tags
Green Green List (high evidence)	NOTCH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Alagille syndrome 2 610205 Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500 Tags
Green Green List (high evidence)	NPR2	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Short stature with nonspecific skeletal abnormalities 616255 Epiphyseal chondrodysplasia, Miura type 615923 Acromesomelic dysplasia, Maroteaux type 602875 Tags
Green Green List (high evidence)	NSD1	1 review 1 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 Green List (high evidence)	NSDHL	2 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 CK syndrome 300831 Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 Tags
Green Green List (high evidence)	OBSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 3-M syndrome 2 612921 Tags
Green Green List (high evidence)	OFD1	2 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 Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome I 311200 XLD Simpson-Golabi-Behmel syndrome, type 2 300209 XLR Joubert syndrome 10 300804 Tags
Green Green List (high evidence)	ORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 1 224690 Meier-Gorlin syndrome 1 224690 Tags
Green Green List (high evidence)	ORC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 2 613800 Meier-Gorlin syndrome 2 613800 Tags
Green Green List (high evidence)	ORC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 3 613803 Meier-Gorlin syndrome 3 613803 Tags
Green Green List (high evidence)	OSTM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal recessive 5 259720 Tags
Green Green List (high evidence)	P3H1	1 review 1 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 Green List (high evidence)	P4HB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 1 112240 Cole-Carpenter syndrome 1 112240 Tags
Green Green List (high evidence)	PAM16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 Tags
Green Green List (high evidence)	PAPSS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 Tags
Green 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 Waardenburg syndrome, type 3, 148820 Craniofacial-deafness-hand syndrome, 122880 Waardenburg syndrome, type 1, 193500 Tags
Green Green List (high evidence)	PCNT	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II 210720 Tags
Green Green List (high evidence)	PCYT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Tags
Green Green List (high evidence)	PDE3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Hypertension and brachydactyly syndrome, 112410 Tags
Green Green List (high evidence)	PDE4D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Acrodysostosis 2, with or without hormone resistance 614613 Acrodysostosis 2, with or without hormone resistance 614613 Tags
Green Green List (high evidence)	PEX5	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Rhizomelic chondrodysplasia punctata, type 5 616716 Peroxisome biogenesis disorder 2A (Zellweger) 214110 Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Rhizomelic CDP type 1 Rhizomelic chondrodysplasia punctata, type 1, 215100 Tags
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Immunodeficiency 23 615816 Immunodeficiency 23 615816 Tags
Green Green List (high evidence)	PHEX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Hypophosphatemic rickets, X-linked dominant 307800 Tags
Green Green List (high evidence)	PHF6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900 Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Phosphoglycerate dehydrogenase deficiency 601815 Neu-Laxova syndrome 1 256520 Tags
Green Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 Tags
Green Green List (high evidence)	PIGV	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300 Tags
Green Green List (high evidence)	PIK3C2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Oculoskeletodental syndrome 618440 Tags
Green Green List (high evidence)	PIK3R1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes SHORT syndrome 269880 Tags
Green Green List (high evidence)	PISD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Liberfarb syndrome MIM# 618889 Spondylometaphyseal dysplasia with large epiphyses, MONDO:0100510 Tags
Green Green List (high evidence)	PITX1	1 review 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 Victorian Clinical Genetics Services Phenotypes Liebenberg syndrome 186550 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800 Tags
Green Green List (high evidence)	PKDCC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rhizomelic limb shortening with dysmorphic features, MIM# 618821 Tags
Green Green List (high evidence)	PLOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Bruck syndrome 2 609220 Tags
Green Green List (high evidence)	PLS3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Bone mineral density QTL18, osteoporosis 300910 Tags
Green Green List (high evidence)	POC1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 Tags
Green Green List (high evidence)	POLR1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Acrofacial dysostosis, Cincinnati type 616462 Tags
Green Green List (high evidence)	POLR1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Treacher-Collins syndrome type 4 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 3 248390 Tags
Green Green List (high evidence)	POLR1D	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 2 613717 Tags
Green Green List (high evidence)	POP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Anauxetic dysplasia 2, 617396 Tags
Green Green List (high evidence)	POR	2 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 Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green Green List (high evidence)	PPIB	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type IX 259440 Osteogenesis imperfecta, type IX 259440 Tags
Green Green List (high evidence)	PRKAR1A	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Pigmented nodular adrenocortical disease, primary, 1 610489 Acrodysostosis 1, with or without hormone resistance 101800 Myxoma, intracardiac 255960 Tags
Green Green List (high evidence)	PRKG2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Acromesomelic dysplasia 4, MIM# 619636 Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638 Tags
Green Green List (high evidence)	PRMT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Tags
Green Green List (high evidence)	PSAT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Neu-Laxova syndrome 2 616038 Tags
Green Green List (high evidence)	PSPH	1 review 1 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 Green List (high evidence)	PTDSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Lenz-Majewski hyperostotic dwarfism 151050 Tags
Green Green List (high evidence)	PTH1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Failure of tooth eruption, primary 125350 Eiken syndrome 600002 Metaphyseal chondrodysplasia, Murk Jansen type 156400 Chondrodysplasia, Blomstrand type 215045 Tags
Green Green List (high evidence)	PTHLH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brachydactyly, type E2 613382 Brachydactyly, type E2 613382 Tags
Green Green List (high evidence)	PTPN11	1 review 1 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 LEOPARD syndrome 1 151100 Noonan syndrome 1 163950 Metachondromatosis 156250 LEOPARD syndrome 1 151100 Tags
Green Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Other Phenotypes Verheij syndrome, 615583 Chromosome 8q24.3 deletion syndrome VRJS PUF60 syndrome Tags
Green Green List (high evidence)	PYCR1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIIB 614438 Cutis laxa, autosomal recessive, type IIB 612940 Tags
Green Green List (high evidence)	RAB23	1 review 1 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 Green List (high evidence)	RAB33B	1 review 1 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 Green List (high evidence)	RAB34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome 20, MIM#620718 Tags
Green Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Martsolf syndrome 1 MIM#212720 Tags
Green Green List (high evidence)	RASGRP2	1 review 1 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 Green List (high evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Thrombocytopenia-absent radius syndrome 274000 Tags
Green Green List (high evidence)	RBPJ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 3, 614814 Tags
Green Green List (high evidence)	RECQL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Rothmund-Thomson syndrome 268400 Baller-Gerold syndrome 218600 RAPILINO syndrome 266280 Tags
Green Green List (high evidence)	RFT1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type In 612015 Tags
Green Green List (high evidence)	RIPPLY2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 6, MIM# 616566 Tags
Green Green List (high evidence)	RMRP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Anauxetic dysplasia 607095 Cartilage-hair hypoplasia 250250 Metaphyseal dysplasia without hypotrichosis 250460 Tags
Green Green List (high evidence)	RNU4ATAC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I 210710 Roifman syndrome 616651 Tags
Green Green List (high evidence)	ROR2	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Brachydactyly, type B1 113000 Robinow syndrome, autosomal recessive 268310 Tags
Green Green List (high evidence)	RPGRIP1L	1 review 1 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 Victorian Clinical Genetics Services Phenotypes COACH syndrome 216360 Joubert syndrome 7 611560 Meckel syndrome 5 611561 Tags
Green Green List (high evidence)	RPL13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal Dysplasia with Severe Short Stature Tags
Green Green List (high evidence)	RUNX2	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Cleidocranial dysplasia, forme fruste, dental anomalies only 119600 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510 Cleidocranial dysplasia, forme fruste, with brachydactyly 119600 Cleidocranial dysplasia 119600 Tags
Green Green List (high evidence)	SALL1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480 Tags
Green Green List (high evidence)	SALL4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes IVIC syndrome 147750 Okihiro (Duane-radial ray) syndrome 607323 Tags
Green Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Shwachman-Diamond syndrome 260400 Shwachman-Diamond syndrome 260400 Tags
Green Green List (high evidence)	SCARF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Van den Ende-Gupta syndrome 600920 Tags
Green Green List (high evidence)	SCUBE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184 Short stature skeletal abnormalities craniofacial abnormalities dental anomalies Tags
Green Green List (high evidence)	SEC24D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome SYNDROMIC OSTEOGENESIS IMPERFECTA Osteogenesis Imperfecta, Cole Carpenter syndrome Tags
Green Green List (high evidence)	SEMA3A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 congenital heart disease skeletal anomalies Tags
Green Green List (high evidence)	SERPINF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes OI/osteoporosis osteogenesis imperfecta Osteogenesis Imperfecta, Recessive Osteogenesis imperfecta, type VI, 613982 Tags
Green Green List (high evidence)	SERPINH1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type X, 613848 OI3 Osteogenesis Imperfecta and Decreased Bone Density {Preterm premature rupture of the membranes, susceptibility to}, 610504 skeletal dysplasias Osteogenesis Imperfecta, Recessive Tags
Green Green List (high evidence)	SETD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Luscan-Lumish syndrome 616831 Tags
Green Green List (high evidence)	SF3B4	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Acrofacial dysostosis 1, Nager type 154400 Tags
Green Green List (high evidence)	SFRP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Pyle disease, MIM#265900 Tags
Green Green List (high evidence)	SGSH	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 Tags
Green Green List (high evidence)	SH3BP2	2 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 118400 Tags
Green Green List (high evidence)	SH3PXD2B	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Frank-ter Haar syndrome 249420 Tags
Green Green List (high evidence)	SHOX	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Leri-Weill dyschondrosteosis 127300 Short stature, idiopathic familial 300582 Langer mesomelic dysplasia 249700 Tags
Green Green List (high evidence)	SKI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Shprintzen-Goldberg syndrome 182212 Tags
Green Green List (high evidence)	SLC10A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes skeletal dysplasia and amelogenesis imperfecta Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 Tags
Green Green List (high evidence)	SLC17A5	2 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 Victorian Clinical Genetics Services Phenotypes Sialic acid storage disorder, infantile 269920 Tags
Green Green List (high evidence)	SLC26A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes multiple epiphyseal dysplasia Epiphyseal dysplasia, multiple, 4 ACG1B,DD,rMED Multiple Epiphyseal Dysplasia, Recessive Tags
Green Green List (high evidence)	SLC29A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Histiocytosis-lymphadenopathy plus syndrome 602782 Tags
Green Green List (high evidence)	SLC34A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 Tags
Green Green List (high evidence)	SLC34A3	1 review 1 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 Green List (high evidence)	SLC35C1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type IIc 266265 Tags
Green Green List (high evidence)	SLC35D1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Schneckenbecken dysplasia 269250 Schneckenbecken dysplasia 269250 Tags
Green Green List (high evidence)	SLC39A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 Tags
Green Green List (high evidence)	SLCO2A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 Tags
Green Green List (high evidence)	SMAD3	0 reviews	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 Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Myhre syndrome 139210 Myhre syndrome 139210 Tags
Green Green List (high evidence)	SMAD6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes {Radioulnar synostosis, nonsyndromic} 179300 Tags
Green Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Schimke immunoosseous dysplasia 242900 Schimke immunoosseous dysplasia 242900 Tags
Green Green List (high evidence)	SMARCB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 3, MIM# 614608 Tags
Green Green List (high evidence)	SMARCE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 5, MIM# 616938 Tags
Green Green List (high evidence)	SMC1A	2 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 Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2 300590 Tags
Green Green List (high evidence)	SMC3	1 review 1 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 Green List (high evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Ophthalmo-acromelic syndrome Polydactyly Microphthalmia with limb anomalies 206920 Tags
Green Green List (high evidence)	SNRPB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cerebrocostomandibular syndrome 117650 Tags
Green Green List (high evidence)	SNX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 8 615085 Tags
Green Green List (high evidence)	SOST	1 review 1 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 Green List (high evidence)	SOX11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome MONDO:0015452 Tags
Green Green List (high evidence)	SOX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Campomelic dysplasia with autosomal sex reversal 114290 Campomelic dysplasia 114290 Acampomelic campomelic dysplasia 114290 Tags
Green Green List (high evidence)	SP7	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XII 613849 Tags
Green Green List (high evidence)	SPARC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XVII 616507 Tags
Green Green List (high evidence)	SRP54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT SCN8 Tags
Green Green List (high evidence)	STT3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Iw MIM#615596 Tags
Green Green List (high evidence)	SUMF1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Multiple sulfatase deficiency 272200 Tags
Green Green List (high evidence)	TAB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980) Tags
Green Green List (high evidence)	TALDO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Transaldolase deficiency 606003 Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome 241410 Kenny-Caffey syndrome, type 1 244460. Kenny-Caffey syndrome, type 1 244460 Tags
Green Green List (high evidence)	TBX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Cousin syndrome 260660 Tags
Green Green List (high evidence)	TBX3	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Ulnar-mammary syndrome 181450 Tags
Green Green List (high evidence)	TBX4	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Ischiocoxopodopatellar syndrome 147891 Ischiocoxopodopatellar syndrome 147891 Tags
Green Green List (high evidence)	TBX5	2 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 Victorian Clinical Genetics Services Phenotypes Holt-Oram syndrome 142900 Tags
Green Green List (high evidence)	TBX6	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 5 122600 Tags
Green Green List (high evidence)	TBXAS1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Ghosal hematodiaphyseal syndrome 231095 Tags
Green Green List (high evidence)	TCIRG1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 1 259700 Tags
Green Green List (high evidence)	TCOF1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 1 154500 Tags
Green Green List (high evidence)	TCTEX1D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 Tags
Green Green List (high evidence)	TCTN2	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Meckel syndrome 8 613885 Joubert syndrome 24 616654 Tags
Green Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome IV 258860 Joubert syndrome 18 614815 Tags
Green Green List (high evidence)	TERT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 Tags
Green Green List (high evidence)	TGFB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Camurati-Engelmann disease 131300 Camurati-Engelmann disease 131300 Tags
Green Green List (high evidence)	TGFB2	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 4 614816 Tags
Green Green List (high evidence)	TGFBR2	0 reviews	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 Green List (high evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 Tags
Green Green List (high evidence)	TMEM165	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIk 614727 Tags
Green Green List (high evidence)	TMEM216	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Meckel syndrome 2 603194 Joubert syndrome 2 608091 Tags
Green Green List (high evidence)	TMEM231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Meckel syndrome 11 615397 Joubert syndrome 20 614970 Tags
Green Green List (high evidence)	TMEM38B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XIV 615066 osteogenesis imperfecta Osteogenesis imperfecta, type XIV, 615066 Tags
Green Green List (high evidence)	TMEM53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary Bone Dysplasia MONDO: 0018230 Tags
Green Green List (high evidence)	TNFRSF11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Osteolysis, familial expansile 174810 Paget disease of bone 2, early-onset 602080 Osteopetrosis, autosomal recessive 7 612301 Tags
Green Green List (high evidence)	TNFRSF11B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Paget disease of bone 5, juvenile-onset 239000 Paget disease of bone 5, juvenile-onset 239000 Tags
Green Green List (high evidence)	TNFSF11	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 2 259710 Tags
Green 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 Green List (high evidence)	TP63	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Hay-Wells syndrome 106260 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 Limb-mammary syndrome 603543 Rapp-Hodgkin syndrome 129400 Orofacial cleft 8 129400 ULT syndrome 103285 Split-hand/foot malformation 4 605289 Tags
Green Green List (high evidence)	TRAPPC2	1 review 1 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, MIM# 313400 Tags
Green Green List (high evidence)	TREM2	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Nasu-Hakola disease 221770 Tags
Green Green List (high evidence)	TRIP11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achondrogenesis, type IA 200600 Achondrogenesis, type IA 200600 Tags
Green Green List (high evidence)	TRPS1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Trichorhinophalangeal syndrome, type I 190350 Trichorhinophalangeal syndrome, type III 190351 Tags
Green Green List (high evidence)	TRPV4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Digital arthropathy-brachydactyly, familial 606835 Parastremmatic dwarfism 168400 Scapuloperoneal spinal muscular atrophy 181405 SED, Maroteaux type 184095 Brachyolmia type 3 113500 Hereditary motor and sensory neuropathy, type IIc 606071 Spinal muscular atrophy, distal, congenital nonprogressive 600175 Metatropic dysplasia 156530 Spondylometaphyseal dysplasia, Kozlowski type 184252 Tags
Green Green List (high evidence)	TRPV6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Hyperparathyroidism, transient neonatal, 618188 Tags
Green Green List (high evidence)	TTC21B	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes SRTD4 Asphyxiating Thoracic Dystrophy Nephronophthisis 12, 613820 Tags
Green Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 8, 615985 Tags
Green Green List (high evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Craniosynostosis, type 1 123100 Saethre-Chotzen syndrome with eyelid anomalies 101400 Saethre-Chotzen syndrome 101400 Robinow-Sorauf syndrome 180750 Tags
Green Green List (high evidence)	TYROBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Nasu-Hakola disease 221770 Tags
Green Green List (high evidence)	UBA2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes ACCES syndrome, MIM# 619959 Split-Hand/Foot Malformation Aplasia Cutis Congenita Ectrodactyly Tags
Green Green List (high evidence)	UFSP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Hip dysplasia, Beukes type, MIM#142669 Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974 Tags
Green Green List (high evidence)	USP9X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes intellectual disability, X-linked 99 MONDO:0010487 Tags
Green Green List (high evidence)	VDR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Victorian Clinical Genetics Services Phenotypes Rickets, vitamin D-resistant, type IIA, 277440 Tags
Green Green List (high evidence)	WDPCP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Phenotypes ?Bardet-Biedl syndrome 15, 615992 ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085 Tags
Green Green List (high evidence)	WDR19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Asphyxiating thoracic dystrophy 5, 614376 Cranioectodermal dysplasia 4, 614378 SRTD5 Tags
Green Green List (high evidence)	WDR34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags
Green Green List (high evidence)	WDR35	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cranioectodermal dysplasia 2 613610 Short-rib thoracic dysplasia 7 with or without polydactyly 614091 Tags
Green Green List (high evidence)	WDR60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly 615503 Tags
Green Green List (high evidence)	WISP3	1 review	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 Green List (high evidence)	WNT1	1 review 1 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 Victorian Clinical Genetics Services Phenotypes OI/osteoporosis osteogenesis imperfecta Osteogenesis imperfecta, type XV, 615220 {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 Tags
Green Green List (high evidence)	WNT10B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Split-hand/foot malformation 6 225300 Tags
Green Green List (high evidence)	WNT5A	1 review 1 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 Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal dominant 1 180700 Tags
Green Green List (high evidence)	WNT7A	1 review 1 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 Green List (high evidence)	XRCC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Short stature, microcephaly, and endocrine dysfunction 616541 Tags
Green Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Desbuquois dysplasia 2 615777 Desbuquois dysplasia 2 615777 Tags
Green Green List (high evidence)	XYLT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Spondyloocular syndrome 605822 Tags
Green Green List (high evidence)	YY1	1 review 1 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 Green List (high evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Restrictive dermopathy, lethal 275210 Mandibuloacral dysplasia with type B lipodystrophy 608612 Tags
Green Green List (high evidence)	ZSWIM6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Acromelic frontonasal dysostosis 603671 Tags
Amber Amber List (moderate evidence)	B9D1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Meckel syndrome 9 614209 Tags
Amber Amber List (moderate evidence)	BNIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes spondyloepiphyseal dysplasia MONDO:0016761 Tags
Amber Amber List (moderate evidence)	CHST11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167 Tags SV/CNV
Amber Amber List (moderate evidence)	FAM20B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Desbuquois dysplasia MONDO:0015426 Tags
Amber Amber List (moderate evidence)	FGF8	2 reviews	Unknown	Sources Expert Review Amber Phenotypes Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel. Tags SV/CNV
Amber Amber List (moderate evidence)	GNPNAT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Rhizomelic dysplasia, Ain-Naz type, MIM#619598 Tags
Amber Amber List (moderate evidence)	HDAC4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Albright hereditary osteodystrophy-like syndrome Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430 Albright hereditary osteodystrophy type 3 Brachydactyly-intellectual disability Del(2)(q37) 600430 Tags
Amber Amber List (moderate evidence)	HNRNPK	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Phenotypes OMIM:616580 Orphanet:453499 Au-Kline syndrome:616580 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation Tags
Amber Amber List (moderate evidence)	HYLS1	3 reviews	Not set	Sources Emory Genetics Laboratory Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hydrolethalus syndrome MIM#236680 Tags
Amber Amber List (moderate evidence)	IFT81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Other Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly -617895 Short-Rib Polydactyly Syndrome Tags
Amber Amber List (moderate evidence)	MANBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Beta-mannosidosis, 248510 Tags
Amber Amber List (moderate evidence)	MIA3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Tags
Amber Amber List (moderate evidence)	MTAP	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250 Tags
Amber Amber List (moderate evidence)	RAD21	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 4 614701 Tags
Amber Amber List (moderate evidence)	RSPRY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 Tags
Amber Amber List (moderate evidence)	SIK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Spondyloepimetaphyseal dysplasia, Krakow type - #618162 Tags
Amber Amber List (moderate evidence)	TAPT1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 Tags
Amber Amber List (moderate evidence)	TMEM251	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dysostosis multiplex, Ain-Naz type 619345 Tags
Red Red List (low evidence)	ACVR2B	2 reviews 2 red	Unknown	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 4, autosomal 613751 Tags
Red Red List (low evidence)	ADGRV1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Tags
Red Red List (low evidence)	ADI1	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes No OMIM or G2P phenotype Tags
Red Red List (low evidence)	AHI1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	AKT1	3 reviews 1 green	Unknown	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes Cowden syndrome 6 615109 Proteus syndrome, somatic 176920 Tags
Red Red List (low evidence)	ARL13B	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ATXN10	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	B9D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Meckel syndrome 10 614175 Tags
Red Red List (low evidence)	BANF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Nestor-Guillermo progeria syndrome 614008 Tags
Red Red List (low evidence)	C5orf42	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CCDC28B	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Red Victorian Clinical Genetics Services Phenotypes {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red Red List (low evidence)	CCDC39	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CCDC40	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CD96	1 review	Not set	Sources Expert Review Amber Genetic Health Queensland NHS GMS Victorian Clinical Genetics Services Phenotypes C-syndrome 217750 (opitz trigonocephaly) Tags
Red Red List (low evidence)	CDC6	1 review 1 red	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 613805 Tags
Red Red List (low evidence)	CDH23	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CEP164	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CEP41	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CFTR	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CKAP2L	1 review 1 green	Not set	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes Syndactyly with microcephaly and MR (Filippi syndrome) 272440 Tags
Red Red List (low evidence)	CLRN1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COL12A1	1 review 1 green	Not set	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339) Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353) {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693) Tags
Red Red List (low evidence)	COL5A1	1 review 1 green	Not set	Sources Expert Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COLEC10	1 review 1 green	Not set	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 3MC syndrome 3 -248340 Tags
Red Red List (low evidence)	CRB1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Tags
Red Red List (low evidence)	CRELD1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Amber Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CRX	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Tags
Red Red List (low evidence)	DACT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature NHS GMS Other Phenotypes ?Townes-Brocks syndrome 2,617466 TBS2 Tags
Red Red List (low evidence)	DLX6	0 reviews	Unknown	Sources Expert Review Red NHS GMS Phenotypes Split-hand/foot malformation 1 with sensorineural hearing loss 220600 Split-hand/foot malformation 1 183600 Tags
Red Red List (low evidence)	DNAAF1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAAF2	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAAF3	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAH11	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAH5	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DNAI1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAI2	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAL1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Amber Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DOLPP1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features) Tags
Red Red List (low evidence)	DPM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iu 615042 Tags
Red Red List (low evidence)	DPM3	1 review 1 green	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Io 612937 Tags
Red Red List (low evidence)	EP300	1 review 1 green	Not set	Sources Expert Review Red NHS GMS Phenotypes Rubinstein Taybi syndrome Rubinstein-Taybi syndrome 180849 Tags
Red Red List (low evidence)	ESR1	1 review 1 green	Not set	Sources Expert Expert Review Green Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ETF1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FBLIM1	0 reviews	Not set	Sources NHS GMS Phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 Tags
Red Red List (low evidence)	FBLN1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 Tags
Red Red List (low evidence)	FBXW4	1 review 1 red	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Split-hand/foot malformation 3 syndrome 246560 Tags
Red Red List (low evidence)	FMN1	1 review	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Amber Expert Review Red Literature UKGTN Phenotypes Animal models with skeletal dysplastic phenotypes Tags
Red Red List (low evidence)	FOXC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FOXH1	1 review	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GDF1	2 reviews 1 green 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GDF3	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes Klippel-Feil anomaly with laryngeal malformation - 613702 Tags
Red Red List (low evidence)	GLIS2	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Amber Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GREM1	1 review	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red UKGTN Tags
Red Red List (low evidence)	GUCY2D	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	HDAC5	0 reviews	Unknown	Sources Expert list Expert Review Red Phenotypes osteoporosis Tags
Red Red List (low evidence)	HOXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 Tags
Red Red List (low evidence)	HOXD11	0 reviews	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	IDH2	1 review 1 green	Unknown	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria 2 613657 Ollier disease/ Dyschondroplasia 166000 Maffucci syndrome 614569 Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875) Tags
Red Red List (low evidence)	IFT88	0 reviews	Unknown	Sources Expert list Expert Review Red UKGTN Tags
Red Red List (low evidence)	INVS	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	IQCB1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	LAMA5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bent bone dysplasia syndrome 2, MIM# 620076 Tags
Red Red List (low evidence)	LCA5	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Tags
Red Red List (low evidence)	LEFTY2	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	LOXL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Expert Review Red Phenotypes Stickler syndrome Tags
Red Red List (low evidence)	LRAT	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	LRP6	2 reviews 1 green	Not set	Sources Expert Tags
Red Red List (low evidence)	LTBP2	1 review 1 green	Not set	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Weill-Marchesani Tags
Red Red List (low evidence)	MAN2C1	2 reviews 2 green	Unknown	Sources Expert list Expert Review Red Literature Phenotypes alpha-Mannosidosis Tags
Red Red List (low evidence)	MCM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Meier-Gorlin syndrome 8, MIM# 617564 Tags
Red Red List (low evidence)	MMP14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Winchester syndrome 277950 Tags
Red Red List (low evidence)	MYO7A	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NEK8	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NEK9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Lethal congenital contracture syndrome 10, MIM# 617022 Skeletal dysplasia Tags founder
Red Red List (low evidence)	NFATC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Skeletal system disorder MONDO:0005172 Tags
Red Red List (low evidence)	NIN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes Seckel syndrome 7 614851 Tags
Red Red List (low evidence)	NKX2-5	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NME8	1 review 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NODAL	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NPHP1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NPHP3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Meckel syndrome 7 267010 Tags
Red Red List (low evidence)	NPHP4	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NPPC	1 review 1 red	Unknown	Sources Expert list Expert Review Red Phenotypes Overgrowth syndrome with 2q37 translocations Tags
Red Red List (low evidence)	OAT	1 review 1 green	Not set	Sources Expert Review Red NHS GMS Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia 258870 Tags
Red Red List (low evidence)	PCDH15	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PIK3CA	1 review 1 green	Not set	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes CLOVES 612918 Tags
Red Red List (low evidence)	PIN1	0 reviews	Unknown	Sources Expert list Expert Review Red Phenotypes No phenotype associated with this gene Tags
Red Red List (low evidence)	PIR	0 reviews	Unknown	Sources Expert Review Red Phenotypes Osteoporosis Tags
Red Red List (low evidence)	PKD2	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PKHD1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PLCB3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961 Tags
Red Red List (low evidence)	PLEKHM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 6 - 611497 Osteopetrosis, autosomal recessive 6 611497 Osteopetrosis, autosomal dominant 3 - 618107 Tags
Red Red List (low evidence)	PLOD1	1 review 1 green	Not set	Sources Expert Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PTPRQ	1 review 1 green	Not set	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 Tags
Red Red List (low evidence)	RD3	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RDH12	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RPE65	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RPGR	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RPGRIP1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Tags
Red Red List (low evidence)	RSPH4A	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	RSPH9	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SCNN1A	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SCNN1B	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SCNN1G	2 reviews 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 16, 615993 Tags
Red Red List (low evidence)	SEM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes SHFM1 Tags
Red Red List (low evidence)	SHH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Preaxial polydactyly type 1 (PPD1) Tags
Red Red List (low evidence)	SLC13A1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes sulfation-related bone disorder MONDO:0019688, SLC13A1-related Tags
Red Red List (low evidence)	SLCO5A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Phenotypes Mesomelia-synostoses syndrome 600383 Mesomelia-synostoses syndrome 600383 Tags
Red Red List (low evidence)	SOX8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), SOX8-related Tags
Red Red List (low evidence)	SPECC1L	1 review 1 green	Other	Sources Expert list Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Facial clefting, oblique, 1 600251 Opitz GBBB syndrome, type II 145410 Teebi hyperterorism like syndrome 145420 Tags
Red Red List (low evidence)	TCTN1	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TDP2	1 review 1 green	Not set	Sources Expert list Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Dentinogenesis imperfecta, Shields type II, 125490 Tags
Red Red List (low evidence)	TGDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes Catel-Manzke syndrome 616145 Tags
Red Red List (low evidence)	THPO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Thrombocythemia 1 187950 (rare presentation with congenital limb defects) Tags
Red Red List (low evidence)	TMEM138	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TMEM237	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes COACH syndrome 216360 Meckel syndrome 3 607361 {Bardet-Biedl syndrome 14, modifier of} 615991 Joubert syndrome 6 610688 Tags
Red Red List (low evidence)	TNXB	1 review 1 green	Not set	Sources Expert Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TOPORS	2 reviews 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Tags
Red Red List (low evidence)	TRIM32	2 reviews 1 green 1 red	Not set	Sources Emory Genetics Laboratory Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 11, 615988 Tags
Red Red List (low evidence)	TRMT10A	1 review 1 green	Not set	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature and impaired glucose metabolism, 616033 Tags
Red Red List (low evidence)	TSC1	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TSC2	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TULP1	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	UMOD	3 reviews 2 green 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	USH1C	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	USH1G	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	USH2A	1 review 1 green	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	VAC14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies) Tags
Red Red List (low evidence)	VHL	0 reviews	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	WHRN	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	WNT3	1 review 1 red	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 Victorian Clinical Genetics Services Phenotypes Tetra-amelia syndrome 273395 Tags
Red Red List (low evidence)	WRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes Werner syndrome -277700 Tags
Red Red List (low evidence)	XPNPEP3	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ZBTB16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Skeletal defects, genital hypoplasia, and mental retardation 612447 Tags
Red Red List (low evidence)	ZIC3	2 reviews 2 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ZNF423	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Tags

Skeletal dysplasia (Version 0.285)

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