GMS Musculoskeletal specialist test group Skeletal dysplasia (Version 0.32)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 402 Entitiess
Green List (high evidence)	ABCC9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome) Tags
Green List (high evidence)	ABL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Congenital heart defects and skeletal malformations syndrome, 617602 Tags
Green List (high evidence)	ACAN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800 Spondyloepimetaphyseal dysplasia, aggrecan type 61283 Spondyloepiphyseal dysplasia, Kimberley type 608361 Tags
Green List (high evidence)	ACP5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondyloenchondrodysplasia with immune dysregulation 607944 Tags
Green List (high evidence)	ACVR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Fibrodysplasia ossificans progressiva 135100 Tags
Green List (high evidence)	ADAMTS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Weill-Marchesani syndrome type 1 Tags
Green List (high evidence)	ADAMTS17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Weill-Marchesani syndrome type 4 Tags
Green List (high evidence)	ADAMTSL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Geleophysic dysplasia 1 231050 Tags
Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) Tags
Green List (high evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Rhizomelic chondrodysplasia punctata, type 3 600121 Tags
Green List (high evidence)	AKT1	1 review 1 green	Unknown	Sources Expert Review Green NHS GMS Phenotypes Proteus syndrome, somatic 176920 Cowden syndrome 6 615109 Tags
Green List (high evidence)	ALG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Ig 607143 Tags
Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Id 601110 Tags
Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Gillessen-Kaesbach-Nishimura syndrome 263210 Congenital disorder of glycosylation, type Il 608776 Tags
Green List (high evidence)	ALPL	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes hypophosphatasia skeletal dysplasias Osteogenesis Imperfecta and Decreased Bone Density Tags
Green List (high evidence)	ALX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Frontonasal dysplasia 1 136760 (frontorhiny) Tags
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 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 Review Green NHS GMS Phenotypes Osteopathia striata with cranial sclerosis 300373 Tags
Green List (high evidence)	ANKH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Chondrocalcinosis 2 118600 Craniometaphyseal dysplasia 123000 Tags
Green List (high evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes KBG syndrome 148050 Tags
Green List (high evidence)	ANO5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Gnatodiaphyseal dysplasia Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias Disproportionate Short Stature Tags
Green List (high evidence)	ANTXR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyaline fibromatosis syndrome 228600 Tags
Green List (high evidence)	ARHGAP31	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Adams-Oliver syndrome 1 100300 Tags
Green List (high evidence)	ARID1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Coffin-Siris syndrome type 1 - 135900 Tags
Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 Tags
Green List (high evidence)	ARSE	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes CDPXL Chondrodysplasia punctata, X-linked recessive, 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED X-linked recessive chondrodysplasia punctata Tags new-gene-name
Green List (high evidence)	ASXL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Shashi-Pena syndrome 617190 Tags
Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIA 219200 Tags
Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Spinal muscular atrophy, distal, 300489 Menkes disease 309400 Occipital horn syndrome 304150 Tags
Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 Tags
Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 Larsen alike phenotype (skd incl) Tags
Green List (high evidence)	B4GALT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070 Tags
Green List (high evidence)	BHLHA9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432 Tags
Green List (high evidence)	BMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteogenesis imperfecta, type XIII, 614856 Tags
Green List (high evidence)	BMP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877. Brachydactyly, type A2 112600 {HFE hemochromatosis, modifier of} 235200 Tags
Green List (high evidence)	BMPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Diaphanospondylodysostosis 608022 Tags
Green List (high evidence)	BMPR1B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Brachydactyly, type A1, D 616849 Brachydactyly, type A2 112600 Acromesomelic dysplasia, Demirhan type 609441 Tags
Green List (high evidence)	C21orf2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylometaphyseal dysplasia, axial 602271 Tags new-gene-name
Green List (high evidence)	C2CD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Orofaciodigital syndrome XIV 615948 Tags
Green List (high evidence)	CA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 Tags
Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Desbuquois dysplasia 1 251450 multiple epiphyseal dysplasia type 7, 617719. Tags
Green List (high evidence)	CASR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypocalcemia, autosomal dominant 601198 Hypocalciuric hypercalcemia, type I 145980 Hyperparathyroidism, neonatal 239200 Hypocalcemia, autosomal dominant, with Bartter syndrome 601198 Tags
Green List (high evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meckel syndrome 6 612284 Tags
Green List (high evidence)	CCDC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-M syndrome 3, 614205 Tags
Green List (high evidence)	CDC45	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) Craniosynostosis (Wilkie) (from Ana Beleza) Tags
Green List (high evidence)	CDH3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 Tags
Green List (high evidence)	CDKN1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted?? No - Paternally imprinted	Sources Expert Review Green NHS GMS Phenotypes IMAGE syndrome 614732 Tags
Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meier-Gorlin syndrome 4 613804 Tags
Green List (high evidence)	CEP120	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 213300 Short-rib thoracic dysplasia 13 with or without polydactyly 616300 Tags
Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meckel syndrome 4 611134 Senior-Loken syndrome 6 610189 Joubert syndrome 5 610188 Bardet-Biedl syndrome 14 615991 Leber congenital amaurosis 10 Tags
Green List (high evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 Tags
Green List (high evidence)	CHST3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 Tags
Green List (high evidence)	CHSY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Temtamy preaxial brachydactyly syndrome 605282 Tags
Green List (high evidence)	CKAP2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Syndactyly with microcephaly and MR (Filippi syndrome) 272440 Tags
Green List (high evidence)	CLCN5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 Dent disease 300009 Nephrolithiasis, type I 310468 Hypophosphatemic rickets 300554 Tags
Green List (high evidence)	CLCN7	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal recessive 4 611490 Osteopetrosis, autosomal dominant 2 166600 Tags
Green List (high evidence)	COG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type IIg 611209 Tags
Green List (high evidence)	COL10A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 Tags
Green List (high evidence)	COL11A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Stickler syndrome, type II 604841 Marshall syndrome 154780 Fibrochondrogenesis 1 228520 Tags
Green List (high evidence)	COL11A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Stickler syndrome, type III 184840 Otospondylomegaepiphyseal dysplasia 215150 Fibrochondrogenesis 2 614524? Tags
Green List (high evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Osteogenesis imperfecta, type I 166200 Caffey disease 114000 Osteogenesis imperfecta, type III 259420 Osteogenesis imperfecta, type II 166210 Ehlers-Danlos syndrome, type VIIA 130060 Ehlers-Danlos syndrome, classic 130000 Osteogenesis imperfecta, type IV 166220 Tags
Green List (high evidence)	COL1A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal OR MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (if exclude 255320)	Sources Expert Review Green NHS GMS Phenotypes Ehlers-Danlos syndrome, cardiac valvular form 225320 Ehlers-Danlos syndrome, type VIIB 130060 Osteogenesis imperfecta, type II 166210 Osteogenesis imperfecta, type III 259420 Osteogenesis imperfecta, type IV 166220 Tags
Green List (high evidence)	COL2A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness 132450 Spondyloepiphyseal dysplasia, Stanescu type 616583 Stickler sydrome, type I, nonsyndromic ocular 609508 Achondrogenesis, type II or hypochondrogenesis 200610 Kniest dysplasia 156550 Legg-Calve-Perthes disease 150600 Otospondylomegaepiphyseal dysplasia 215150 Stickler syndrome, type I 108300 SMED Strudwick type 184250 Spondyloperipheral dysplasia 271700 Platyspondylic skeletal dysplasia, Torrance type 151210 Czech dysplasia 609162 SED congenita 183900 Osteoarthritis with mild chondrodysplasia 604864 Avascular necrosis of the femoral head 608805 Tags
Green List (high evidence)	COL9A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Stickler syndrome, type IV 614134 Epiphyseal dysplasia, multiple, 6 614135 Tags
Green List (high evidence)	COL9A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Epiphyseal dysplasia, multiple, 2 600204 Stickler syndrome, type V 614284 Stickler syndrome, type V, 614284 {Intervertebral disc disease, susceptibility to}, 603932 Tags
Green List (high evidence)	COL9A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes MED multiple epiphyseal dysplasia 3, with or without myopathy - 600969 Tags
Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3MC syndrome 2 265050 Tags
Green List (high evidence)	COMP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Epiphyseal dysplasia, multiple, 1 132400 Pseudoachondroplasia 177170 Tags
Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Rubinstein-Taybi syndrome 180849 Tags
Green List (high evidence)	CRTAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteogenesis imperfecta, type VII 610682 Tags
Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:475 Joubert syndrome ORPHA:564 Meckel syndrome Joubert syndrome 21 615636 Tags
Green List (high evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galactosialidosis 256540 Tags
Green List (high evidence)	CTSC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Haim-Munk syndrome 245010, Tags
Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pycnodysostosis 265800 Tags
Green List (high evidence)	CUL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-M syndrome 1 273750 Tags
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 List (high evidence)	DDR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported Tags
Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Desmosterolosis 602398 Tags
Green List (high evidence)	DHODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Miller syndrome (postaxial acrofacial dysostosis) 263750 Tags
Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Perlman syndrome 267000 Tags
Green List (high evidence)	DLL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 1, autosomal recessive 277300 Tags
Green List (high evidence)	DLL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Adams-Oliver syndrome 6, 616589 Tags
Green List (high evidence)	DLX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Amelogenesis imperfecta, type IV 104510 Trichodontoosseous syndrome 190320 Tags
Green List (high evidence)	DLX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Split-hand/foot malformation 1 with sensorineural hearing loss 220600 Tags
Green List (high evidence)	DMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypophosphatemic rickets, AR, 241520 Tags
Green List (high evidence)	DNMT3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Tatton-Brown-Rahman syndrome 615879 Tags
Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Adams-Oliver syndrome 2 614219 Tags
Green List (high evidence)	DPM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Ie 608799 Tags
Green List (high evidence)	DVL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Robinow syndrome, autosomal dominant 2 616331 Tags
Green List (high evidence)	DVL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Robinow syndrome, autosomal dominant 3, 616894 Tags
Green List (high evidence)	DYM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Dyggve-Melchior-Clausen disease 223800 Smith-McCort dysplasia 607326 Tags
Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091 Tags
Green List (high evidence)	DYNC2LI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY SRTD15 #617088 Tags
Green List (high evidence)	EBP	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes MEND syndrome-300960 XLR. CDPXLD Chondrodysplasia punctata, X-linked dominant, 302960 Tags
Green List (high evidence)	EED	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cohen-Gibson syndrome 617561 Tags
Green List (high evidence)	EFNB1	1 review 1 green	X-LINKED: hemizygous mutation in males is generally not pathogenic, monoallelic mutations in females may cause disease, as do mosaic mutations in males	Sources Expert Review Green NHS GMS Phenotypes Craniofrontonasal dysplasia 304110 Tags
Green List (high evidence)	EFTUD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 Tags
Green List (high evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Wolcott-Rallison syndrome 226980 Tags
Green List (high evidence)	ENPP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypophosphatemic rickets, autosomal recessive, 2 613312 Cole disease 615522 Tags
Green List (high evidence)	EOGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Adams Oliver syndrome 4 Tags
Green List (high evidence)	EP300	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Rubinstein-Taybi syndrome 180849 Tags
Green List (high evidence)	ERF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Chitayat syndrome - 617180 Craniosynostosis 4 600775 Tags
Green List (high evidence)	ESCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes SC phocomelia syndrome 269000 Roberts syndrome 268300 Tags
Green List (high evidence)	EVC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ECV1 Ellis-van Creveld syndrome, 225500 Tags
Green List (high evidence)	EVC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ellis-van Creveld syndrome 225500 Weyers acrofacial dysostosis 193530 Tags
Green List (high evidence)	EXT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes trichorhinophalangeal syndrome type 2 -150230 Exostoses, multiple, type 13370 Tags
Green List (high evidence)	EXT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Exostoses, multiple, type 2 133701 Tags
Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 Tags
Green List (high evidence)	EZH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Weaver syndrome Tags
Green List (high evidence)	FAM111A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Gracile bone dysplasia 602361 Kenny-Caffey syndrome, type 2 127000 Tags
Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Raine syndrome 259775 Tags
Green List (high evidence)	FAM58A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes STAR syndrome 300707 Tags new-gene-name
Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Geleophysic dysplasia 2 614185 Stiff skin syndrome 184900 Marfan syndrome 154700 Acromicric dysplasia 102370 Weill-Marchesani syndrome 2, dominant 608328 Tags
Green List (high evidence)	FBN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Contractural arachnodactyly, congenital 121050 Tags
Green List (high evidence)	FERMT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leukocyte adhesion deficiency, type III 612840 Tags
Green List (high evidence)	FGF10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes ?Multiple synostoses syndrome type 3 612961 Tags
Green List (high evidence)	FGF16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes LADD syndrome 149730 Tags
Green List (high evidence)	FGF23	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Metacarpal 4-5 fusion 309630 Tags
Green List (high evidence)	FGFR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Osteoglophonic dysplasia 166250 Hartsfield syndrome 615465 Jackson-Weiss syndrome 123150 Pfeiffer syndrome 101600 Trigonocephaly 1 190440 Tags
Green List (high evidence)	FGFR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Beare-Stevenson cutis gyrata syndrome 123790 Craniosynostosis, nonspecific Crouzon syndrome 123500 Craniofacial-skeletal-dermatologic dysplasia 101600 Pfeiffer syndrome 101600 Gastric cancer, somatic 613659 Jackson-Weiss syndrome 123150 LADD syndrome 149730 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Apert syndrome 101200 Bent bone dysplasia syndrome 614592 Tags
Green List (high evidence)	FGFR3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Thanatophoric dysplasia, type I 187600 Muenke syndrome 602849 CATSHL syndrome 610474 SADDAN 616482 Thanatophoric dysplasia, type II 187601 Achondroplasia 100800 LADD syndrome 149730 Hypochondroplasia 146000 Crouzon syndrome with acanthosis nigricans 612247 Tags
Green List (high evidence)	FIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Yunis-Varon syndrome 216340 Tags
Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Brucks syndrome 1 - 259450 Osteogenesis imperfecta, type XI, 610968 Tags
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 Terminal osseous dysplasia 300244 Melnick Needles syndrome 309350 Frontometaphyseal dysplasia 305620 Otopalatodigital syndrome, type II -304120 Otopalatodigital syndrome, type I -311300 Tags
Green List (high evidence)	FLNB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocarpotarsal synostosis syndrome 272460 Atelosteogenesis, type III 108721 Boomerang dysplasia 112310 Atelosteogenesis, type I 108720 Larsen syndrome 150250 Tags
Green List (high evidence)	FN1	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 List (high evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fucosidosis 230000 Tags
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 Tags
Green List (high evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis IVA 253000 Tags
Green List (high evidence)	GALNT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Tumoral calcinosis, hyperphosphatemic, familial I 211900 Tags
Green List (high evidence)	GDF5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Brachydactyly, type C 113100 Acromesomelic dysplasia, Hunter-Thompson type 201250 Du Pan syndrome 228900 {Osteoarthritis-5} 612400 Chondrodysplasia, Grebe type 200700 Brachydactyly, type A2 112600 Brachydactyly, type A1, C 615072 Symphalangism, proximal, 1B 615298 Multiple synostoses syndrome 2 610017 Tags
Green List (high evidence)	GDF6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Klippel-Feil syndrome 1, autosomal dominant 118100 Multiple synostoses syndrome type 4 - 617898. Tags
Green List (high evidence)	GHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes increased responsiveness to growth hormone 604271 Laron dwarfism, 262500 Growth hormone insensitivity Tags
Green List (high evidence)	GJA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Oculodentodigital dysplasia 164200 Syndactyly, type III 186100 Erythrokeratodermia variabilis et progressiva 133200 Palmoplantar keratoderma with congenital alopecia 104100 Oculodentodigital dysplasia, autosomal recessive 257850 Craniometaphyseal dysplasia, autosomal recessive 218400 Hypoplastic left heart syndrome 1 241550 Tags
Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes GM1-gangliosidosis, type I 230500 Mucopolysaccharidosis type IVB (Morquio) 253010 Tags
Green List (high evidence)	GLI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Greig cephalopolysyndactyly syndrome 175700 Polydactyly, postaxial, types A1 and B 174200 Polydactyly, preaxial, type IV 174700 Pallister-Hall syndrome 146510 {Hypothalamic hamartomas, somatic} 241800 Tags
Green List (high evidence)	GNAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green NHS GMS Phenotypes Pseudohypoparathyroidism Ia 103580 Pseudohypoparathyroidism Ib 603233 Osseous heteroplasia, progressive 166350 McCune-Albright syndrome, somatic, mosaic 174800 Tags
Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Rhizomelic Chondrodysplasia Punctata RCDP2 Rhizomelic chondrodysplasia punctata type 2 Chondrodysplasia punctata, rhizomelic, type 2, 222765 Tags
Green List (high evidence)	GNPTAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucolipidosis III alpha/beta 252600 Mucolipidosis II alpha/beta 252500 Tags
Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucolipidosis III gamma 252605 Tags
Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis type IIID 252940 Tags
Green List (high evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Geroderma osteodysplasticum 231070 Tags
Green List (high evidence)	GPC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Omodysplasia 1 258315 Tags
Green List (high evidence)	GSC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 Tags
Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis VII 253220 Tags
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 Expert Review Green NHS GMS Phenotypes Wilson-Turner syndrome 309585 Cornelia de Lange syndrome 5 300882 Tags
Green List (high evidence)	HES7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 4, autosomal recessive 613686 Tags
Green List (high evidence)	HGSNAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 Tags
Green List (high evidence)	HOXD11	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Syndactyly, type V 186300 Brachydactyly-syndactyly syndrome 610713 Brachydactyly, type E 113300 Synpolydactyly 1 186000 Brachydactyly, type D 113200 Tags
Green List (high evidence)	HOXD13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cranioosteoarthropathy 259100 Digital clubbing, isolated congenital 119900 Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 Tags
Green List (high evidence)	HPGD	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cranioosteoarthropathy 259100 Digital clubbing, isolated congenital 119900 Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 Tags
Green List (high evidence)	HSPG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Dyssegmental dysplasia, Silverman-Handmaker type 224410 Schwartz-Jampel syndrome, type 1 255800 Tags
Green List (high evidence)	IDH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875) Tags
Green List (high evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis II 309900 Tags
Green List (high evidence)	IDUA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis Ih 607014 Mucopolysaccharidosis Is 607016 Mucopolysaccharidosis Ih/s 607015 Tags
Green List (high evidence)	IFIH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Singleton-Merten syndrome 1 (182250) Tags
Green List (high evidence)	IFITM5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Osteogenesis imperfecta, type V 610967 Tags
Green List (high evidence)	IFT122	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cranioectodermal dysplasia 1 218330 Tags
Green List (high evidence)	IFT140	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 Tags
Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 SRTD10 Tags
Green List (high evidence)	IFT80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly 611263 Tags
Green List (high evidence)	IGF1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Tags
Green List (high evidence)	IHH	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Acrocapitofemoral dysplasia 607778 Brachydactyly, type A1 112500 Tags
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 Review Green NHS GMS Phenotypes Incontinentia pigmenti 308300 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 Tags
Green List (high evidence)	IL11RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Craniosynostosis and dental anomalies 614188 Tags
Green List (high evidence)	IL1RN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Interleukin 1 receptor antagonist deficiency 612852 Tags
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 List (high evidence)	INPPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Opsismodysplasia 258480 Tags
Green List (high evidence)	2q37.3 terminal region (includes HDAC4) Loss ISCA-37394-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination 600430 Tags
Green List (high evidence)	KAT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Mental retardation, autosomal dominant 32 - 616268 Tags
Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes SBBYSS syndrome 603736 Genitopatellar syndrome 606170 Tags
Green List (high evidence)	KIF22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 Tags
Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 12 200990 Acrocallosal syndrome 200990 Tags
Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Kabuki syndrome 1 - 147920 Tags
Green List (high evidence)	LBR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pelger-Huet anomaly with mild skeletal anomalies 618019 Greenberg skeletal dysplasia 215140 Pelger-Huet anomaly 169400 Tags
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 List (high evidence)	LIFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 Tags
Green List (high evidence)	LMBR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Laurin-Sandrow syndrome 135750 Polydactyly, preaxial type II 174500 Hypoplastic or aplastic tibia with polydactyly 188740 Triphalangeal thumb, type I 174500 Triphalangeal thumb-polysyndactyly syndrome 174500 Syndactyly, type IV 186200 Acheiropody 200500 Tags
Green List (high evidence)	LMNA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Heart-hand syndrome, Slovenian type 610140 616516 Hutchinson-Gilford progeria 176670 Mandibuloacral dysplasia 248370 Tags
Green List (high evidence)	LMX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Nail-patella syndrome 161200 Tags
Green List (high evidence)	LONP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373 Tags
Green List (high evidence)	LPIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 Tags
Green List (high evidence)	LRP4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sclerosteosis 2 614305 Cenani-Lenz syndactyly syndrome 212780 Tags
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 Expert Review Green NHS GMS Phenotypes [Bone mineral density variability 1] 601884 Osteopetrosis, autosomal dominant 1 607634 Osteosclerosis 144750 van Buchem disease, type 2 607636 Osteoporosis-pseudoglioma syndrome 259770 Hyperostosis, endosteal 144750 {Osteoporosis} 166710 Tags
Green List (high evidence)	LTBP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Dental anomalies and short stature 610216 Geleophysic dysplasia 3 617809 Tags
Green List (high evidence)	MAFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Multicentric carpotarsal osteolysis syndrome 166300 Tags
Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mannosidosis, alpha-, types I and II 248500 Tags
Green List (high evidence)	MANBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Beta-mannosidosis, 248510 Tags
Green List (high evidence)	MAP3K7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Frontometaphyseal dysplasia 2, 617137 Tags
Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3MC syndrome 1 - 257920 Tags
Green List (high evidence)	MATN3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia, 608728 Epiphyseal dysplasia, multiple, 5, 607078 Tags
Green List (high evidence)	MEGF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Carpenter syndrome 2 614976 Tags
Green List (high evidence)	MEOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Klippel-Feil syndrome 2 214300 Tags
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 List (high evidence)	MGP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Keutel syndrome 245150 Tags
Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meckel syndrome 1 249000 Bardet-Biedl syndrome 13 615990 Tags
Green List (high evidence)	MMP13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Metaphyseal anadysplasia 1 602111 Spondyloepimetaphyseal dysplasia, Missouri type 602111 Metaphyseal dysplasia, Spahr type - 250400 Tags
Green List (high evidence)	MMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Multicentric osteolysis, nodulosis, and arthropathy 259600 Tags
Green List (high evidence)	MMP9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Metaphyseal anadysplasia 2 613073 Tags
Green List (high evidence)	MNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Currarino syndrome 176450 Tags
Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type If 609180 Tags
Green List (high evidence)	MSX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Craniosynostosis, type 2 604757 Parietal foramina with cleidocranial dysplasia 168550 Parietal foramina 1 168500 Tags
Green List (high evidence)	MYCN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 Tags
Green List (high evidence)	NAGLU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 Tags
Green List (high evidence)	NANS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 Tags
Green List (high evidence)	NEK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short rib thoracic dysplasia 6 with or without polydactyly - 263520 Tags
Green List (high evidence)	NEU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sialidosis, type II 256550 Sialidosis, type I 256550 Tags
Green List (high evidence)	NF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Neurofibromatosis, familial spinal 162210 Neurofibromatosis-Noonan syndrome 601321 Neurofibromatosis, type 1 162200 Tags
Green List (high evidence)	NFIX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Marshall-Smith syndrome 602535 Sotos syndrome 2 614753 Tags
Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cornelia de Lange syndrome 1 122470 Tags
Green List (high evidence)	NKX3-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia 613330 Tags
Green List (high evidence)	NLRP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115 Tags
Green List (high evidence)	NOG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Symphalangism, proximal, 1A 185800 Brachydactyly, type B2 611377 Tarsal-carpal coalition syndrome 186570 Stapes ankylosis with broad thumb and toes 184460 Multiple synostoses syndrome 1 186500 Tags
Green List (high evidence)	NOTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Limb, scalp and skull defects AOS Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly) Adams-Oliver syndrome 5, 616028 Tags
Green List (high evidence)	NOTCH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500 Alagille syndrome 2 610205 Tags
Green List (high evidence)	NPR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Acromesomelic dysplasia, Maroteaux type 602875 Short stature with nonspecific skeletal abnormalities 616255 Epiphyseal chondrodysplasia, Miura type 615923 Tags
Green List (high evidence)	NSD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Sotos syndrome 1 117550 Tags
Green List (high evidence)	NSDHL	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 Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 CK syndrome 300831 Tags
Green List (high evidence)	OAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia 258870 Tags
Green List (high evidence)	OBSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-M syndrome 2 612921 Tags
Green List (high evidence)	OFD1	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 Joubert syndrome 10 300804 Simpson-Golabi-Behmel syndrome, type 2 300209 XLR Orofaciodigital syndrome I 311200 XLD Tags
Green List (high evidence)	ORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meier-Gorlin syndrome 1 224690 Tags
Green List (high evidence)	ORC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meier-Gorlin syndrome 2 613800 Tags
Green List (high evidence)	ORC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meier-Gorlin syndrome 3 613803 Tags
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 List (high evidence)	P3H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteogenesis imperfecta, type VIII 610915 Tags
Green List (high evidence)	P4HB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cole-Carpenter syndrome 1 112240 Tags
Green List (high evidence)	PAM16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 Tags
Green List (high evidence)	PAPSS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 Tags
Green List (high evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II 210720 Tags
Green List (high evidence)	PCYT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Tags
Green List (high evidence)	PDE3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Hypertension and brachydactyly syndrome, 112410 Tags
Green List (high evidence)	PDE4D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Acrodysostosis 2, with or without hormone resistance 614613 Tags
Green List (high evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Peroxisome biogenesis disorder 2A (Zellweger) 214110 Rhizomelic chondrodysplasia punctata, type 5 616716 Tags
Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100 Rhizomelic CDP type 1 Tags
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 Expert Review Green NHS GMS Phenotypes Hypophosphatemic rickets, X-linked dominant 307800 Tags
Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 Tags
Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300 Tags
Green List (high evidence)	PIK3R1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes SHORT syndrome 269880 Tags
Green List (high evidence)	PITX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800 Liebenberg syndrome 186550 Tags
Green List (high evidence)	PLOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bruck syndrome 2 609220 Tags
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 Green NHS GMS Phenotypes Bone mineral density QTL18, osteoporosis 300910 Tags
Green List (high evidence)	POC1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 Tags
Green List (high evidence)	POLR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Acrofacial dysostosis, Cincinnati type 616462 Tags
Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Treacher Collins syndrome 3 248390 Tags
Green List (high evidence)	POLR1D	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Treacher Collins syndrome 2 613717 Tags
Green List (high evidence)	POP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Anauxetic dysplasia 2, 617396 Tags
Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green List (high evidence)	PPIB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteogenesis imperfecta, type IX 259440 Tags
Green List (high evidence)	PRKAR1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Acrodysostosis 1, with or without hormone resistance 101800 Tags
Green List (high evidence)	PRMT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Tags
Green List (high evidence)	PSAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neu-Laxova syndrome 2 616038 Tags
Green List (high evidence)	PSPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Phosphoserine phosphatase deficiency 614023 Tags
Green List (high evidence)	PTDSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Lenz-Majewski hyperostotic dwarfism 151050 Tags
Green List (high evidence)	PTH1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Failure of tooth eruption, primary 125350 Eiken syndrome 600002 Metaphyseal chondrodysplasia, Murk Jansen type 156400 Chondrodysplasia, Blomstrand type 215045 Tags
Green List (high evidence)	PTHLH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Brachydactyly, type E2 613382 Tags
Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Metachondromatosis 156250 LEOPARD syndrome 1 151100 Noonan syndrome 1 163950 Tags
Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Verheij syndrome, 615583 VRJS Tags
Green List (high evidence)	PYCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIB 612940 Cutis laxa, autosomal recessive, type IIIB 614438 Tags
Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Carpenter syndrome 201000 Tags
Green List (high evidence)	RAB33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Smith-McCort dysplasia 2 615222 Tags
Green List (high evidence)	RAD21	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cornelia de Lange syndrome 4 614701 Tags
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 Tags
Green List (high evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Thrombocytopenia-absent radius syndrome 274000 Tags
Green List (high evidence)	RECQL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes RAPILINO syndrome 266280 Rothmund-Thomson syndrome 268400 Baller-Gerold syndrome 218600 Tags
Green List (high evidence)	RFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type In 612015 Tags
Green List (high evidence)	RMRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cartilage-hair hypoplasia 250250 Anauxetic dysplasia 607095 Metaphyseal dysplasia without hypotrichosis 250460 Tags
Green List (high evidence)	RNU4ATAC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Roifman syndrome 616651 Microcephalic osteodysplastic primordial dwarfism, type I 210710 Tags
Green List (high evidence)	ROR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Brachydactyly, type B1 113000 Robinow syndrome, autosomal recessive 268310 Tags
Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes COACH syndrome 216360 Meckel syndrome 5 611561 Joubert syndrome 7 611560 Tags
Green List (high evidence)	RUNX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510 Cleidocranial dysplasia, forme fruste, with brachydactyly 119600 Cleidocranial dysplasia, forme fruste, dental anomalies only 119600 Cleidocranial dysplasia 119600 Tags
Green List (high evidence)	SALL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480 Tags
Green List (high evidence)	SALL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Okihiro (Duane-radial ray) syndrome 607323 IVIC syndrome 147750 Tags
Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Shwachman-Diamond syndrome 260400 Tags
Green List (high evidence)	SCARF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Van den Ende-Gupta syndrome 600920 Tags
Green List (high evidence)	SEC24D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteogenesis Imperfecta, Cole Carpenter syndrome Cole-Carpenter syndrome SYNDROMIC OSTEOGENESIS IMPERFECTA Tags
Green List (high evidence)	SERPINF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteogenesis imperfecta, type VI, 613982 osteogenesis imperfecta OI/osteoporosis Osteogenesis Imperfecta, Recessive Tags
Green List (high evidence)	SETD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Luscan-Lumish syndrome 616831 Tags
Green List (high evidence)	SF3B4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Acrofacial dysostosis 1, Nager type 154400 Tags
Green List (high evidence)	SFRP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes PYL Metaphyseal dysplasia Pyle disease 265900 Tags
Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 Tags
Green List (high evidence)	SH3BP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cherubism 118400 Tags
Green List (high evidence)	SH3PXD2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Frank-ter Haar syndrome 249420 Tags
Green List (high evidence)	SHOX	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Langer mesomelic dysplasia 249700 Short stature, idiopathic familial 300582 Leri-Weill dyschondrosteosis 127300 Tags
Green List (high evidence)	SKI	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Shprintzen-Goldberg syndrome 182212 Tags
Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sialic acid storage disorder, infantile 269920 Tags
Green List (high evidence)	SLC26A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ACG1B,DD,rMED multiple epiphyseal dysplasia Multiple Epiphyseal Dysplasia, Recessive Epiphyseal dysplasia, multiple, 4 Tags
Green List (high evidence)	SLC29A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Histiocytosis-lymphadenopathy plus syndrome 602782 Tags
Green List (high evidence)	SLC34A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypophosphatemic rickets with hypercalciuria 241530 Tags
Green List (high evidence)	SLC35D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Schneckenbecken dysplasia 269250 Tags
Green List (high evidence)	SLC39A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 Tags
Green List (high evidence)	SLCO2A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 Tags
Green List (high evidence)	SMAD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Loeys-Dietz syndrome 3 613795 Tags
Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Myhre syndrome 139210 Tags
Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Schimke immunoosseous dysplasia 242900 Tags
Green List (high evidence)	SMC1A	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 Cornelia de Lange syndrome 2 300590 Tags
Green List (high evidence)	SMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cornelia de Lange syndrome 3 610759 Tags
Green List (high evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microphthalmia with limb anomalies 206920 Ophthalmo-acromelic syndrome Polydactyly Tags
Green List (high evidence)	SNRPB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cerebrocostomandibular syndrome 117650 Tags
Green List (high evidence)	SNX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal recessive 8 615085 Tags
Green List (high evidence)	SOST	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Craniodiaphyseal dysplasia, autosomal dominant 122860 Van Buchem disease 239100 Sclerosteosis 1 269500 Tags
Green List (high evidence)	SOX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Campomelic dysplasia with autosomal sex reversal 114290 Acampomelic campomelic dysplasia 114290 Campomelic dysplasia 114290 Tags
Green List (high evidence)	SUMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Multiple sulfatase deficiency 272200 Tags
Green List (high evidence)	TALDO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Transaldolase deficiency 606003 Tags
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. Tags
Green List (high evidence)	TBX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cousin syndrome 260660 Tags
Green List (high evidence)	TBX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Ulnar-mammary syndrome 181450 Tags
Green List (high evidence)	TBX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Ischiocoxopodopatellar syndrome 147891 Tags
Green List (high evidence)	TBX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Holt-Oram syndrome 142900 Tags
Green List (high evidence)	TBX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Spondylocostal dysostosis 5 122600 Tags
Green List (high evidence)	TBXAS1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ghosal hematodiaphyseal syndrome 231095 Tags
Green List (high evidence)	TCF12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Craniosynostosis 3 615314 Tags
Green List (high evidence)	TCIRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal recessive 1 259700 Tags
Green List (high evidence)	TCOF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Treacher Collins syndrome 1 154500 Tags
Green List (high evidence)	TCTEX1D2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 Tags new-gene-name
Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 24 616654 Meckel syndrome 8 613885 Tags
Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Orofaciodigital syndrome IV 258860 Joubert syndrome 18 614815 Tags
Green List (high evidence)	TERT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 Tags
Green List (high evidence)	TGDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Catel-Manzke syndrome 616145 Tags
Green List (high evidence)	TGFB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Camurati-Engelmann disease 131300 Tags
Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Loeys-Dietz syndrome 4 614816 Tags
Green List (high evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Loeys-Dietz syndrome 1 609192 Tags
Green List (high evidence)	TGFBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Loeys-Dietz syndrome 2 610168 Tags
Green List (high evidence)	TMCO1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 Tags
Green List (high evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type IIk 614727 Tags
Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meckel syndrome 2 603194 Joubert syndrome 2 608091 Tags
Green List (high evidence)	TMEM231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 20 614970 Meckel syndrome 11 615397 Tags
Green List (high evidence)	TMEM38B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteogenesis imperfecta, type XIV 615066 Osteogenesis imperfecta, type XIV, 615066 osteogenesis imperfecta Tags
Green List (high evidence)	TNFRSF11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Osteolysis, familial expansile 174810 Osteopetrosis, autosomal recessive 7 612301 Paget disease of bone 2, early-onset 602080 Tags
Green List (high evidence)	TNFRSF11B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Paget disease of bone 5, juvenile-onset 239000 Tags
Green List (high evidence)	TNFSF11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal recessive 2 259710 Tags
Green List (high evidence)	TP63	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Rapp-Hodgkin syndrome 129400 Orofacial cleft 8 129400 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 Hay-Wells syndrome 106260 ULT syndrome 103285 Split-hand/foot malformation 4 605289 Limb-mammary syndrome 603543 Tags
Green List (high evidence)	TRAPPC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Spondyloepiphyseal dysplasia tarda 313400 Tags
Green List (high evidence)	TREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nasu-Hakola disease 221770 Tags
Green List (high evidence)	TRIP11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Achondrogenesis, type IA 200600 Tags
Green List (high evidence)	TRPS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Trichorhinophalangeal syndrome, type III 190351 Trichorhinophalangeal syndrome, type I 190350 Tags
Green List (high evidence)	TRPV4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Brachyolmia type 3 113500 Hereditary motor and sensory neuropathy, type IIc 606071 Digital arthropathy-brachydactyly, familial 606835 SED, Maroteaux type 184095 Parastremmatic dwarfism 168400 Metatropic dysplasia 156530 Scapuloperoneal spinal muscular atrophy 181405 Spinal muscular atrophy, distal, congenital nonprogressive 600175 Spondylometaphyseal dysplasia, Kozlowski type 184252 Tags
Green List (high evidence)	TTC21B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephronophthisis 12, 613820 Asphyxiating Thoracic Dystrophy SRTD4 Tags
Green List (high evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Robinow-Sorauf syndrome 180750 Saethre-Chotzen syndrome 101400 Craniosynostosis, type 1 123100 Saethre-Chotzen syndrome with eyelid anomalies 101400 Tags
Green List (high evidence)	TYROBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nasu-Hakola disease 221770 Tags
Green List (high evidence)	WDR34	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name
Green List (high evidence)	WDR35	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly 614091 Cranioectodermal dysplasia 2 613610 Tags
Green List (high evidence)	WDR60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly 615503 Tags new-gene-name
Green List (high evidence)	WISP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Arthropathy, progressive pseudorheumatoid, of childhood 208230 Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 Tags new-gene-name
Green List (high evidence)	WNT1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes osteogenesis imperfecta OI/osteoporosis {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 Osteogenesis imperfecta, type XV, 615220 Tags
Green List (high evidence)	WNT10B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Split-hand/foot malformation 6 225300 Tags
Green List (high evidence)	WNT5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Robinow syndrome, autosomal dominant 1 180700 Tags
Green List (high evidence)	WNT7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ulna and fibula, absence of, with severe limb deficiency 276820 Fuhrmann syndrome 228930 Tags
Green List (high evidence)	WRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Werner syndrome -277700 Tags
Green List (high evidence)	XRCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short stature, microcephaly, and endocrine dysfunction 616541 Tags
Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Desbuquois dysplasia 2 615777 Tags
Green List (high evidence)	YY1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Gabriele-de Vries syndrome 617557 Tags
Green List (high evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mandibuloacral dysplasia with type B lipodystrophy 608612 Restrictive dermopathy, lethal 275210 Tags
Amber List (moderate evidence)	COLEC10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes 3MC syndrome 3 -248340 Tags
Amber List (moderate evidence)	CREB3L1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Osteogenesis imperfecta, type XVI 616229 Tags
Amber List (moderate evidence)	DCC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 Tags
Amber List (moderate evidence)	DLX6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Split-hand/foot malformation 1 183600 Tags
Amber List (moderate evidence)	FBLIM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 Tags
Amber List (moderate evidence)	FBLN1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 Tags
Amber List (moderate evidence)	FGF9	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes ?Multiple synostoses syndrome type 3 612961 Tags
Amber List (moderate evidence)	GDF3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Klippel-Feil anomaly with laryngeal malformation - 613702 Tags
Amber List (moderate evidence)	GPX4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Spondylometaphyseal dysplasia, Sedaghatian type 250220 Tags
Amber List (moderate evidence)	GZF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Larsen syndrome Tags
Amber List (moderate evidence)	HDAC4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Albright hereditary osteodystrophy type 3 Brachydactyly-intellectual disability Albright hereditary osteodystrophy-like syndrome Del(2)(q37) 600430 Tags
Amber List (moderate evidence)	HNRNPK	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 Tags
Amber List (moderate evidence)	HOXA11	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 Tags
Amber List (moderate evidence)	HOXA13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Tags
Amber List (moderate evidence)	ICK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Endocrine-cerebroosteodysplasia 612651 Tags new-gene-name
Amber List (moderate evidence)	IDH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875 Maffucci syndrome 614569 Ollier disease/ Dyschondroplasia 166000 Tags
Amber List (moderate evidence)	IFT43	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Short-rib thoracic dysplasia 18 with polydactyly - 617866 ?Cranioectodermal dysplasia 3 - 614099 Tags
Amber List (moderate evidence)	IFT52	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102 Tags
Amber List (moderate evidence)	IFT81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly -617895 Tags
Amber List (moderate evidence)	LFNG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Spondylocostal dysostosis 3, autosomal recessive 609813 Tags
Amber List (moderate evidence)	LTBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Weill-Marchesani Tags
Amber List (moderate evidence)	NIN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Seckel syndrome 7 614851 Tags
Amber List (moderate evidence)	PGM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Immunodeficiency 23 615816 Tags
Amber List (moderate evidence)	PIK3CA	1 review	Mosaicism	Sources Expert Review Amber NHS GMS Phenotypes CLOVES 612918 Tags
Amber List (moderate evidence)	PLEKHM1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Osteopetrosis, autosomal recessive 6 - 611497 Osteopetrosis, autosomal dominant 3 - 618107 Tags
Amber List (moderate evidence)	RBPJ	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Adams-Oliver syndrome 3, 614814 Tags
Amber List (moderate evidence)	RIPPLY2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Spondylocostal dysostosis 6 - 616566 Tags
Amber List (moderate evidence)	SERPINH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Osteogenesis Imperfecta, Recessive OI3 Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias {Preterm premature rupture of the membranes, susceptibility to}, 610504 Osteogenesis imperfecta, type X, 613848 Tags
Amber List (moderate evidence)	SP7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Osteogenesis imperfecta, type XII 613849 Tags
Amber List (moderate evidence)	TMEM67	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes COACH syndrome 216360 Meckel syndrome 3 607361 Joubert syndrome 6 610688 {Bardet-Biedl syndrome 14, modifier of} 615991 Tags
Amber List (moderate evidence)	UFSP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 Tags
Amber List (moderate evidence)	WDR19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Cranioectodermal dysplasia 4, 614378 Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Tags
Amber List (moderate evidence)	WNT3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Tetra-amelia syndrome 273395 Tags
Amber List (moderate evidence)	XYLT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Spondyloocular syndrome 605822 Tags
Amber List (moderate evidence)	ZIC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Craniosynostosis 6 616602 Tags
Red List (low evidence)	ALX1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Frontonasal dysplasia type 3 613456 Tags
Red List (low evidence)	ASXL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Bohring-Opitz syndrome 605039 Tags
Red List (low evidence)	B9D1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Meckel syndrome 9 614209 Tags
Red List (low evidence)	CD96	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes C-syndrome 217750 (opitz trigonocephaly) Tags
Red List (low evidence)	16p13.3 region (includes CREBBP) Loss ISCA-37406-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list 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
Red List (low evidence)	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss ISCA-37418-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list NHS GMS Phenotypes Potocki-Lupski syndrome hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders Smith-Magenis syndrome Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance 182290 moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies Dental abnormalities Tags
Red List (low evidence)	1p36 terminal region (includes GABRD) Loss ISCA-37434-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list NHS GMS Phenotypes posteriorly rotated, low-set, abnormal ears brachycephaly epicanthus heart defects pointed chin deep-set eyes microcephaly hypotonia seizures poor/absent speech central nervous system anomalies large anterior fontanels microbrachycephaly mental retardation growth impairment large, late-closing anterior fontanel flat nose nasal bridge developmental delay hearing impairment distinct dysmorphic features 1p36 deletion syndrome 607872 Tags
Red List (low evidence)	11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss ISCA-37441-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list NHS GMS Phenotypes Potocki-Shaffer syndrome multiple exostoses biparietal foramina intellectual disability strabismus minor craniofacial anomalies myopia ophthalmologic anomalies 601224 mental retardation enlarged anterior fontanel genital abnormalities in males parietal foramina developmental delay Tags
Red List (low evidence)	MIR17HG	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Feingold syndrome 2, 614326 Tags
Red List (low evidence)	SLCO5A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Mesomelia-synostoses syndrome 600383 Tags
Red List (low evidence)	SULF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Mesomelia-synostoses syndrome 600383 Tags
Red List (low evidence)	THPO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Thrombocythemia 1 187950 (rare presentation with congenital limb defects) Tags
Red List (low evidence)	TWIST2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Ablepharon-macrostomia syndrome 200110 Barber-Say syndrome 209885 Tags

GMS Musculoskeletal specialist test group Skeletal dysplasia (Version 0.32)

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402 reviewed, 354 green

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