Limb and Digital Malformations SuperPanel (Version 0.169)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 325 Entitiess
Green Green List (high evidence)	10q24 duplication syndrome Split hand foot malformation 3 10q24 duplication syndrome Split hand foot malformation 3 Region Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Split-hand/foot malformation 3, gene duplication syndrome, MIM#246560 Tags
Green Green List (high evidence)	ACVR1 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Fibrodysplasia ossificans progressiva 135100 Tags clinical trial
Green Green List (high evidence)	ADAMTS10 Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Disease associations Weill-Marchesani syndrome 1, recessive, 277600 Tags
Green Green List (high evidence)	ADAMTS17 Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Weill-Marchesani syndrome type 4 Tags
Green Green List (high evidence)	AFF4 Hand and foot malformations v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Other Expert Review Green Victorian Clinical Genetics Services Disease associations CHOPS syndrome MIM#616368 Tags
Green Green List (high evidence)	AKT3 Polydactyly v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Tags
Green Green List (high evidence)	ANKRD11 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations KBG syndrome 148050 Tags
Green Green List (high evidence)	ARHGAP31 Hand and foot malformations v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Genetic Health Queensland Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Adams-Oliver syndrome 1 100300 Tags
Green Green List (high evidence)	ARID1A Hand and foot malformations v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Disease associations Coffin-Siris Tags
Green Green List (high evidence)	ARID1B Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Disease associations Coffin-Siris syndrome type 1 - 135900 Tags
Green Green List (high evidence)	ARL6 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green Green List (high evidence)	B3GLCT Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Peters-plus syndrome 261540 Tags
Green Green List (high evidence)	B9D1 Polydactyly v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Ciliopathy, MONDO:0005308, B9D1-related Tags
Green Green List (high evidence)	B9D2 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Joubert syndrome 34, MIM#614175 Meckel syndrome 10, MIM#614175 Tags
Green Green List (high evidence)	BBS1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 1, MIM# 209900 Tags
Green Green List (high evidence)	BBS10 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	BBS12 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	BBS2 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	BBS4 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 4, MIM#615982 MONDO:0014433 Tags
Green Green List (high evidence)	BBS5 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green Green List (high evidence)	BBS7 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green Green List (high evidence)	BBS9 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 9, MIM#615986 MONDO:0014437 Tags
Green Green List (high evidence)	BHLHA9 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432 Tags
Green Green List (high evidence)	BMP2 Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Brachydactyly, type A2 112600 short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877. Tags
Green Green List (high evidence)	BMP2 downstream regulatory region BMP2 downstream regulatory region Region Hand and foot malformations v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Brachydactyly, type A2 MIM#112600 Tags regulatory region
Green Green List (high evidence)	BMP4 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	BMPR1B Hand and foot malformations v1.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Acromesomelic dysplasia, Demirhan type 609441 Brachydactyly, type A1, D 616849 Brachydactyly, type A2 112600 Tags
Green Green List (high evidence)	BRCA2 Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group D1, MIM# 605724 Tags
Green Green List (high evidence)	BRIP1 Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group J, MIM# 609054 Tags treatable
Green Green List (high evidence)	C2CD3 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CACNA1C Hand and foot malformations v1.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Timothy syndrome MIM#601005 Tags
Green Green List (high evidence)	CC2D2A Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CCND2 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CCNQ Hand and foot malformations v1.12	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 Expert list Disease associations syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408 Tags
Green Green List (high evidence)	CDH3 Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 Tags
Green Green List (high evidence)	CDK20 Polydactyly v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Lemire-Marshall-Drivas-Chitayat syndrome, MIM# 621676 Tags
Green Green List (high evidence)	CENPF Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CEP120 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Tags
Green Green List (high evidence)	CEP164 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome Nephronophthisis 15, MIM# 614845 Oro-facio-digital syndrome Tags
Green Green List (high evidence)	CEP290 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CEP41 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CHSY1 Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Temtamy preaxial brachydactyly syndrome 605282 Tags
Green Green List (high evidence)	CIBAR1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Polydactyly, postaxial, type A9, MIM# 618219 Tags
Green Green List (high evidence)	CILK1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Endocrine-cerebroosteodysplasia, MIM# 612651 Tags
Green Green List (high evidence)	CKAP2L Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CPLANE1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 17, MIM# 614615 MONDO:0013824 Orofaciodigital syndrome VI, MIM# 277170 Tags new gene name
Green Green List (high evidence)	CPLANE2 Polydactyly v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ciliopathy, MONDO:0005308, CPLANE2-related Tags
Green Green List (high evidence)	CREBBP Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Rubinstein-Taybi syndrome 180849 Tags
Green Green List (high evidence)	CSPP1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 21, MIM# 615636 MONDO:0014288 Tags
Green Green List (high evidence)	DDX59 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Orofaciodigital syndrome V (MIM#174300) Tags
Green Green List (high evidence)	DHCR7 Polydactyly v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Smith-Lemli-Opitz syndrome - MIM#270400 Tags
Green Green List (high evidence)	DHCR7 Hand and foot malformations v1.12	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green NHS GMS Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Smith-Lemli-Opitz syndrome 270400 Tags
Green Green List (high evidence)	DHODH Hand and foot malformations v1.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Miller syndrome (postaxial acrofacial dysostosis) 263750 Tags
Green Green List (high evidence)	DLL4 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Adams-Oliver syndrome 6, 616589 Tags
Green Green List (high evidence)	DLX5 Hand and foot malformations v1.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list NHS GMS Disease associations Split-hand/foot malformation 1 with sensorineural hearing loss 220600 Tags
Green Green List (high evidence)	DLX5 downstream regulatory region DLX5 downstream regulatory region Region Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Split-hand/foot malformation 1 MIM#183600 Tags regulatory region
Green Green List (high evidence)	DOCK6 Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Adams-Oliver syndrome 2 614219 Tags
Green Green List (high evidence)	DPF2 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Coffin-Siris syndrome 7 MIM#618027 Tags
Green Green List (high evidence)	DVL1 Hand and foot malformations v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Expert Review Green UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Disease associations Robinow syndrome, autosomal dominant 2, MIM# 616331 Tags
Green Green List (high evidence)	DVL3 Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Robinow syndrome, autosomal dominant 3, 616894 Tags
Green Green List (high evidence)	DYNC1I1 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related Tags SV/CNV
Green Green List (high evidence)	DYNC2H1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127 Tags
Green Green List (high evidence)	DYNC2I1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Retinitis pigmentosa Tags
Green Green List (high evidence)	DYNC2I2 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	DYNC2LI1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088) Tags
Green Green List (high evidence)	DYNLT2B Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405 Tags
Green Green List (high evidence)	EBP Polydactyly v1.20	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	EOGT Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Adams Oliver syndrome 4 Tags
Green Green List (high evidence)	EP300 Hand and foot malformations v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Rubinstein-Taybi syndrome 180849 Tags
Green Green List (high evidence)	ERCC4 Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi aanemia, complementation group Q, MIM# 615272 MONDO:0014108 Tags
Green Green List (high evidence)	ESCO2 Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations SC phocomelia syndrome 269000 Roberts syndrome 268300 Tags
Green Green List (high evidence)	ESCO2 Radial Ray Abnormalities v2.1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Roberts syndrome 268300 SC phocomelia syndrome 269000 Juberg-Hayward syndrome, MIM# 216100 Tags
Green Green List (high evidence)	EVC Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ellis-van Creveld syndrome, MIM# 225500 Tags
Green Green List (high evidence)	EVC2 Polydactyly v1.20	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ellis-van Creveld syndrome, MIM# 225500 Weyers acrofacial dysostosis, MIM# 193530 Tags
Green Green List (high evidence)	FAAP100 Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Fanconi anaemia, complementation group X, MIM# 621258 Tags
Green Green List (high evidence)	FANCA Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group A, MIM# 227650 MONDO:0009215 Tags
Green Green List (high evidence)	FANCB Radial Ray Abnormalities v2.1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group B, MIM# 300514 MONDO:0010351 Tags
Green Green List (high evidence)	FANCC Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group C, MIM# 227645 MONDO:0009213 Tags
Green Green List (high evidence)	FANCD2 Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group D2, MIM# 227646 MONDO:0009214 Tags
Green Green List (high evidence)	FANCE Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953 Tags
Green Green List (high evidence)	FANCF Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group F 603467 MONDO:0011325 Tags
Green Green List (high evidence)	FANCG Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group G, MIM# 614082 MONDO:0013565 Tags
Green Green List (high evidence)	FANCI Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group I, MIM# 609053 MONDO:0012186 Tags
Green Green List (high evidence)	FANCL Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group L, MIM# 614083 MONDO:0013566 Tags
Green Green List (high evidence)	FAT1 Hand and foot malformations v1.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Focal segmental glomerulosclerosis (MONDO:0100313), FAT1-related Tags
Green Green List (high evidence)	FBN1 Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Marfan syndrome 154700 Weill-Marchesani syndrome 2, dominant 608328 Stiff skin syndrome 184900 Acromicric dysplasia 102370 Geleophysic dysplasia 2 614185 Tags
Green Green List (high evidence)	FGF10 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Disease associations Lacrimoauriculodentodigital syndrome (149730) Aplasia of lacrimal and salivary glands (180920) Tags
Green Green List (high evidence)	FGF10 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FGF9 Hand and foot malformations v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Multiple synostoses syndrome type 3 612961 Tags
Green Green List (high evidence)	FGFR1 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FGFR2 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FGFR2 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations LADD syndrome, MIM#149730 Tags
Green Green List (high evidence)	FGFR3 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations LADD syndrome, MIM#149730 Tags
Green Green List (high evidence)	FGFR3 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FIG4 Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Yunis-Varon syndrome, MIM# 216340 Tags
Green Green List (high evidence)	FIG4 Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Yunis-Varon syndrome 216340 Amyotrophic lateral sclerosis 11 612577 Tags
Green Green List (high evidence)	FLNA Hand and foot malformations v1.12	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Disease associations Osteodysplasty Melnick Needles 309350 XLD Otopalatodigital syndrome, type II 304120 XLD Frontometaphyseal dysplasia 305620 Terminal osseous dysplasia 300244 Otopalatodigital syndrome, type I -311300 Tags
Green Green List (high evidence)	FLNA Radial Ray Abnormalities v2.1	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 Expert list Disease associations Melnick-Needles syndrome, 309350 Tags
Green Green List (high evidence)	FLVCR1 Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, FLVCR1-related Tags
Green Green List (high evidence)	FRAS1 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FREM2 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FZD2 Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Autosomal dominant omodysplasia 164745 Autosomal dominant omodysplasia type 2 164745 Tags
Green Green List (high evidence)	GDF5 Polydactyly v1.20	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	GDF5 Hand and foot malformations v1.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Brachydactyly, type A1, C, MIM# 615072 Brachydactyly, type A2 MIM#112600 Brachydactyly, type C, MIM# 113100 Symphalangism, proximal, 1B, MIM# 615298 Tags
Green Green List (high evidence)	GDF6 Hand and foot malformations v1.12	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Multiple synostoses syndrome type 4 - 617898. Klippel-Feil syndrome 1, autosomal dominant 118100 Tags
Green Green List (high evidence)	GJA1 Hand and foot malformations v1.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hypoplastic left heart syndrome 1 241550 Syndactyly, type III 186100 Oculodentodigital dysplasia 164200 Palmoplantar keratoderma with congenital alopecia 104100 Craniometaphyseal dysplasia, autosomal recessive 218400 Erythrokeratodermia variabilis et progressiva 133200 Oculodentodigital dysplasia, autosomal recessive 257850 Tags
Green Green List (high evidence)	GLI1 Polydactyly v1.20	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Polydactyly, postaxial, type A8 MIM#618123 Polydactyly, preaxial I MIM#174400 Tags
Green Green List (high evidence)	GLI2 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	GLI3 Polydactyly v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Greig cephalopolysyndactyly syndrome, MIM# 175700 Pallister-Hall syndrome, MIM# 146510 Polydactyly, postaxial, types A1 and B, MIM# 174200 Polydactyly, preaxial, type IV, MIM# 174700 Tags
Green Green List (high evidence)	GNAS Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Disease associations McCune-Albright syndrome, somatic, mosaic 174800 ACTH-independent macronodular adrenal hyperplasia 219080 IC Osseous heteroplasia, progressive 166350 Pseudohypoparathyroidism Ic 612462 Pseudopseudohypoparathyroidism 612463 Pseudohypoparathyroidism Ia 103580 Pseudohypoparathyroidism Ib 603233 Tags
Green Green List (high evidence)	GPC3 Polydactyly v1.20	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	GRIP1 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	GSC Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471 Tags
Green Green List (high evidence)	HDAC8 Hand and foot malformations v1.12	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Wilson-Turner syndrome 309585 Cornelia de Lange syndrome 5 300882 Tags
Green Green List (high evidence)	HDAC8 Radial Ray Abnormalities v2.1	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 Expert list Disease associations Cornelia de Lange syndrome 5, MIM# 300882 Tags
Green Green List (high evidence)	HMGB1 Polydactyly v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 Tags
Green Green List (high evidence)	HNRNPK Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HOXA13 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Hand-foot-uterus syndrome, MIM# 140000 Tags
Green Green List (high evidence)	HOXA13 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HOXA13_HFGS_GCN1 STR Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HOXA13_HFGS_GCN2 STR Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HOXA13_HFGS_GCN3 STR Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HOXA13_HFGS_GCN3 STR Polydactyly v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HOXD13 Hand and foot malformations v1.12	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200 Syndactyly, type V, MIM# 186300 Synpolydactyly 1, MIM# 186000 Brachydactyly-syndactyly syndrome, MIM# 610713 Tags
Green Green List (high evidence)	HOXD13 Polydactyly v1.20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Disease associations Synpolydactyly 1, MIM# 186000 Tags
Green Green List (high evidence)	HOXD13_SPD1_GCG STR Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Synpolydactyly 1 MIM#186000 Tags paediatric-onset
Green Green List (high evidence)	HOXD13_SPD1_GCG STR Polydactyly v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Synpolydactyly 1 MIM#186000 Tags paediatric-onset
Green Green List (high evidence)	HYLS1 Polydactyly v1.20	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hydrolethalus syndrome (MIM#236680) Tags founder
Green Green List (high evidence)	IFT140 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 Tags
Green Green List (high evidence)	IFT172 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IFT27 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IFT43 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IFT52 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102 Tags
Green Green List (high evidence)	IFT80 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IHH Hand and foot malformations v1.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Brachydactyly, type A1 112500 Acrocapitofemoral dysplasia 607778 Tags
Green Green List (high evidence)	IHH upstream regulatory region IHH upstream regulatory region Region Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Craniosynostosis, Philadelphia type, with syndactyly, MIM#185900 Syndactyly, type 1, MIM#185900 Tags regulatory region
Green Green List (high evidence)	INPP5E Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IQCE Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Polydactyly, postaxial, type A7 MIM#617642 Tags
Green Green List (high evidence)	2q37.3 deletion syndrome ISCA-37394-Loss Region Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Disease associations Chromosome 2q37 deletion syndrome, MIM# 600430 brachydactyly intellectual disability Tags SV/CNV
Green Green List (high evidence)	Chromosome 7q36.3 duplication syndrome (SHH cis-regulatory duplication, ZRS) ISCA-37467-Gain Region Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Disease associations Syndactyly, type IV, MIM# 186200 limb anomalies congenital heart disease congenital anomalies Tags regulatory region
Green Green List (high evidence)	Chromosome 15q25 deletion syndrome ISCA-37500-Loss Region Radial Ray Abnormalities v2.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Chromosome 15q25 deletion syndrome MIM#614294 intellectual disability congenital abnormalities haematological abnormalities Tags
Green Green List (high evidence)	KDM6A Hand and foot malformations v1.12	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Disease associations Kabuki syndrome 2 MIM#300867 Tags
Green Green List (high evidence)	KIAA0586 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	KIAA0825 Polydactyly v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Polydactyly, postaxial, type A10, MIM# 618498 Tags
Green Green List (high evidence)	KIF7 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	KMT2A Hand and foot malformations v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Wiedemann-Steiner syndrome MIM#605130 Tags
Green Green List (high evidence)	KMT2D Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Kabuki syndrome 1 - 147920 Tags
Green Green List (high evidence)	LBR Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Greenberg skeletal dysplasia, MIM# 215140 Tags
Green Green List (high evidence)	LEF1 Polydactyly v1.20	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224 Tags
Green Green List (high evidence)	LEF1 Radial Ray Abnormalities v2.1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224 Tags
Green Green List (high evidence)	LMBR1 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Disease associations Polydactyly, preaxial type II, MIM# 174500 Tags
Green Green List (high evidence)	LMBR1 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Laurin-Sandrow syndrome, MIM# 135750 Tags SV/CNV
Green Green List (high evidence)	LRP4 Hand and foot malformations v1.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Sclerosteosis 2 614305 Cenani-Lenz syndactyly syndrome 212780 Tags
Green Green List (high evidence)	LTBP3 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Geleophysic dysplasia 3 617809 Dental anomalies and short stature 610216 Tags
Green Green List (high evidence)	LZTFL1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	MAP3K20 Polydactyly v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Split-foot malformation with mesoaxial polydactyly MIM#616890 Tags
Green Green List (high evidence)	MAPKAPK5 Polydactyly v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurocardiofaciodigital syndrome, MIM# 619869 Tags
Green Green List (high evidence)	MAX Polydactyly v1.20	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Polydactyly-macrocephaly syndrome, MIM# 620712 Tags
Green Green List (high evidence)	MECOM Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738 Radioulnar synostosis without hematological aberration, no OMIM # Tags
Green Green List (high evidence)	MEGF8 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	MGP Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Keutel syndrome 245150 Tags
Green Green List (high evidence)	MKKS Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	MKS1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MYCN Polydactyly v1.20	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Megalencephaly-polydactyly syndrome, MIM# 620748 Tags
Green Green List (high evidence)	MYCN Hand and foot malformations v1.12	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Megalencephaly-polydactyly syndrome, MIM# 620748 Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 Tags
Green Green List (high evidence)	NECTIN1 Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060 Tags
Green Green List (high evidence)	NECTIN4 Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ectodermal dysplasia-syndactyly syndrome 1 MIM#613573 Tags
Green Green List (high evidence)	NEK1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Tags
Green Green List (high evidence)	NIPBL Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Cornelia de Lange syndrome 1, MIM# 122470 Tags
Green Green List (high evidence)	NIPBL Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Cornelia de Lange syndrome 1 122470 Tags
Green Green List (high evidence)	NOG Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations NOG-related symphalangism spectrum disorder MONDO:0100521 Tags
Green Green List (high evidence)	NOTCH1 Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Limb, scalp and skull defects AOS Adams-Oliver syndrome 5, 616028 Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly) Tags
Green Green List (high evidence)	NPHP3 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	NPM1 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations radial ray defects short stature nail dsytrophy bone marrow failure Tags
Green Green List (high evidence)	NSDHL Hand and foot malformations v1.12	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Expert Review Green NHS GMS Disease associations CK syndrome 300831 Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 Tags
Green Green List (high evidence)	NXN Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Robinow syndrome, autosomal recessive 2 MIM#618529 Tags
Green Green List (high evidence)	OFD1 Polydactyly v1.20	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PALB2 Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group N, MIM# 610832 Tags
Green Green List (high evidence)	PDE3A Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Hypertension and brachydactyly syndrome, 112410 Tags
Green Green List (high evidence)	PDE4D Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Acrodysostosis 2, with or without hormone resistance 614613 Tags
Green Green List (high evidence)	PGM3 Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Immunodeficiency 23 615816 Tags
Green Green List (high evidence)	PHF6 Hand and foot malformations v1.12	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 Expert list Disease associations Borjeson-Forssman-Lehmann syndrome MIM#301900 Tags
Green Green List (high evidence)	PIGV Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperphosphatasia with mental retardation syndrome 1 239300 Tags
Green Green List (high evidence)	PIK3CA Polydactyly v1.20	2 reviews	Other	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501 Tags somatic
Green Green List (high evidence)	PIK3R2 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PITX1 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PITX1 upstream regulatory region PITX1 upstream regulatory region Region Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Liebenberg syndrome, MIM#186550 Tags regulatory region
Green Green List (high evidence)	POLR1A Hand and foot malformations v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Acrofacial dysostosis, Cincinnati type 616462 Tags
Green Green List (high evidence)	PORCN Polydactyly v1.20	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PRKACA Polydactyly v1.20	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Cardioacrofacial dysplasia 1, MONDO:0030876 Tags
Green Green List (high evidence)	PRKACB Polydactyly v1.20	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Cardioacrofacial dysplasia 2, MONDO:0030877 Tags
Green Green List (high evidence)	PRKAR1A Hand and foot malformations v1.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Myxoma, intracardiac 255960 Acrodysostosis 1, with or without hormone resistance 101800 Pigmented nodular adrenocortical disease, primary, 1 610489 Tags
Green Green List (high evidence)	PRMT7 Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Tags
Green Green List (high evidence)	PRMT9 Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Disease associations Neurodevelopmental disorder, MONDO:0700092, PRMT9-related Tags
Green Green List (high evidence)	PTDSS1 Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Lenz-Majewski hyperostotic dwarfism 151050 Tags
Green Green List (high evidence)	PTHLH Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Brachydactyly, type E2 613382 Tags
Green Green List (high evidence)	RAB23 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RAB34 Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Orofaciodigital syndrome 20, MIM#620718 Tags
Green Green List (high evidence)	RAB34 Polydactyly v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Orofaciodigital syndrome 20, MIM#620718 Tags
Green Green List (high evidence)	RAD21 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Cornelia de Lange syndrome 4, MIM# 614701 Tags
Green Green List (high evidence)	RAD21 Hand and foot malformations v1.12	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Cornelia de Lange syndrome 4 614701 Tags
Green Green List (high evidence)	RAD51C Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group O, MIM# 613390 Tags
Green Green List (high evidence)	RBM10 Polydactyly v1.20	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RBM8A Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Thrombocytopenia-absent radius syndrome 274000 Tags
Green Green List (high evidence)	RBM8A Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Thrombocytopenia-absent radius syndrome, MIM# 274000 Tags SV/CNV
Green Green List (high evidence)	RBPJ Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Adams-Oliver syndrome 3, 614814 Tags
Green Green List (high evidence)	RECQL4 Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Baller-Gerold syndrome, MIM# 218600 RAPADILINO syndrome, MIM# 266280 Rothmund-Thomson syndrome, type 2,MIM# 268400 Tags
Green Green List (high evidence)	RECQL4 Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Rothmund-Thomson syndrome 268400 RAPILINO syndrome 266280 Baller-Gerold syndrome 218600 Tags
Green Green List (high evidence)	ROR2 Hand and foot malformations v1.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Robinow syndrome, autosomal recessive 268310 Brachydactyly, type B1 113000 Tags
Green Green List (high evidence)	RPGRIP1L Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RPL11 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 7, MIM# 612562 MONDO:0012938 Tags
Green Green List (high evidence)	RPL15 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Diamond-Blackfan anemia 12, MIM# 615550 Tags
Green Green List (high evidence)	RPL26 Radial Ray Abnormalities v2.1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 11, MIM# 614900 Tags
Green Green List (high evidence)	RPL35A Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 5, MIM# 612528 MONDO:0012925 Tags SV/CNV
Green Green List (high evidence)	RPL5 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 6, MIM# 612561 MONDO:0012937 Tags
Green Green List (high evidence)	RPS10 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 9, MIM# 613308 MONDO:0013216 Tags
Green Green List (high evidence)	RPS17 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 4, MIM# 612527 MONDO:0012924 Tags
Green Green List (high evidence)	RPS19 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 1, MIM# 105650 MONDO:0007110 Tags
Green Green List (high evidence)	RPS24 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Diamond-blackfan anaemia 3, MIM# 610629 MONDO:0012529 Tags
Green Green List (high evidence)	RPS26 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 10, MIM# 613309 MONDO:0013217 Tags
Green Green List (high evidence)	RPS7 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 8, MIM# 612563 MONDO:0012939 Tags
Green Green List (high evidence)	S1PR2 Hand and foot malformations v1.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Sensorineural hearing loss disorder MONDO:0020678, S1PR2-related Congenital limb malformation, MONDO:0019054, S1PR2-related Tags
Green Green List (high evidence)	SALL1 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Townes-Brocks syndrome 1, MIM#107480 MONDO:0054581 Tags
Green Green List (high evidence)	SALL1 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SALL4 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Duane-radial ray syndrome, MIM# 607323 MONDO:0011812 IVIC syndrome, MIM# 147750 MONDO:0007836 Tags
Green Green List (high evidence)	SALL4 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SC5D Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SCNM1 Polydactyly v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Disease associations Orofaciodigital syndrome 19, MONDO:0859310 Tags
Green Green List (high evidence)	SETD5 Polydactyly v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 23 (MIM#615761) Tags
Green Green List (high evidence)	SETD5 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 23 (MIM#615761) Tags
Green Green List (high evidence)	SF3B4 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Acrofacial dysostosis 1, Nager type 154400 Tags
Green Green List (high evidence)	SF3B4 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Acrofacial dysostosis 1, Nager type, MIM# 154400 Tags
Green Green List (high evidence)	SHH Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SHOX Radial Ray Abnormalities v2.1	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 Expert list Disease associations Leri-Weill dyschondrosteosis, MIM# 127300 Langer mesomelic dysplasia, MIM#249700 Tags
Green Green List (high evidence)	SHOX downstream regulatory region SHOX downstream regulatory region Region Radial Ray Abnormalities v2.1	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 Literature Literature Disease associations Leri-Weill dyschondrosteosis (MIM#127300) Short stature, idiopathic familial (MIM#300582) Tags regulatory region
Green Green List (high evidence)	SLX4 Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group P, MIM# 613951 MONDO:0013499 Tags
Green Green List (high evidence)	SMAD4 Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Myhre syndrome 139210 Tags
Green Green List (high evidence)	SMARCA2 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Nicolaides-Baraitser syndrome MIM#601358 Tags
Green Green List (high evidence)	SMARCA4 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Coffin-Siris syndrome 4 MIM#614609 Tags
Green Green List (high evidence)	SMARCB1 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Coffin-Siris syndrome 3 MIM#614608 Tags
Green Green List (high evidence)	SMARCE1 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Coffin-Siris syndrome 5 MIM#616938 Tags
Green Green List (high evidence)	SMC1A Hand and foot malformations v1.12	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Cornelia de Lange syndrome 2 300590 Tags
Green Green List (high evidence)	SMC1A Radial Ray Abnormalities v2.1	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 Expert list Disease associations Cornelia de Lange syndrome 2, MIM# 300590 Tags
Green Green List (high evidence)	SMC3 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Cornelia de Lange syndrome 3 610759 Tags
Green Green List (high evidence)	SMC3 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Cornelia de Lange syndrome 3, MIM# 610759 Tags
Green Green List (high evidence)	SMO Polydactyly v1.20	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microcephaly, congenital heart disease, polydactyly, aganglionosis Pallister-Hall-like syndrome , MIM#241800 Curry-Jones syndrome, somatic mosaic 601707 Tags
Green Green List (high evidence)	SMOC1 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SOST Hand and foot malformations v1.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Van Buchem disease 239100 Sclerosteosis 1 269500 Craniodiaphyseal dysplasia, autosomal dominant 122860 Tags
Green Green List (high evidence)	SOX9 Hand and foot malformations v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Campomelic dysplasia with autosomal sex reversal 114290 Tags
Green Green List (high evidence)	SPINT2 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420 MONDO:0010036 Tags founder
Green Green List (high evidence)	TBX15 Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cousin syndrome 260660 Tags
Green Green List (high evidence)	TBX3 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ulnar-mammary syndrome, MIM# 181450 MONDO:0008411 Tags
Green Green List (high evidence)	TBX3 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TBX5 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TBX5 Radial Ray Abnormalities v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Holt-Oram syndrome, MIM# 142900 Tags
Green Green List (high evidence)	TCTN2 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green Green List (high evidence)	TCTN3 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TFAP2A Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TFAP2B Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TGDS Hand and foot malformations v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Catel-Manzke syndrome 616145 Tags
Green Green List (high evidence)	TMEM107 Polydactyly v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Meckel syndrome 13 MIM#617562 Orofaciodigital syndrome XVI MIM#617563 Tags
Green Green List (high evidence)	TMEM138 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TMEM17 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Meckel syndrome MONDO:0018921, TMEM17-related Tags
Green Green List (high evidence)	TMEM216 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TMEM231 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TMEM237 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 14, MIM# 614424 Tags
Green Green List (high evidence)	TMEM67 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TP63 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 Tags
Green Green List (high evidence)	TRAF3IP1 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green Green List (high evidence)	TRPS1 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Trichorhinophalangeal syndrome, type III 190351 Trichorhinophalangeal syndrome, type I 190350 Tags
Green Green List (high evidence)	TRPV4 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Expert Review Green Disease associations Parastremmatic dwarfism 168400 Metatropic dysplasia 156530 Spinal muscular atrophy, distal, congenital nonprogressive 600175 Scapuloperoneal spinal muscular atrophy 181405 SED, Maroteaux type 184095 Spondylometaphyseal dysplasia, Kozlowski type 184252 Hereditary motor and sensory neuropathy, type IIc 606071 Brachyolmia type 3 113500 Digital arthropathy-brachydactyly, familial 606835 Tags
Green Green List (high evidence)	TTC21B Polydactyly v1.20	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TTC8 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green Green List (high evidence)	TWIST1 Polydactyly v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Robinow-Sorauf syndrome, MIM# 180750 Tags
Green Green List (high evidence)	UBA2 Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations ACCES syndrome, MIM# 619959 Split-Hand/Foot Malformation Aplasia Cutis Congenita Ectrodactyly Tags
Green Green List (high evidence)	UBE2T Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Fanconi anemia, complementation group T, MIM# 616435 Tags SV/CNV
Green Green List (high evidence)	UBE3B Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485 Tags
Green Green List (high evidence)	USP9X Polydactyly v1.20	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 Victorian Clinical Genetics Services Disease associations Intellectual developmental disorder 99 MIM#300919 syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Tags
Green Green List (high evidence)	VCP Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Adams-Oliver syndrome MONDO:0007034, VCP-related Tags
Green Green List (high evidence)	WDPCP Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 15, MIM# 615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR19 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	WDR35 Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cranioectodermal dysplasia 2, MIM#613610 MONDO:0013323 Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091 MONDO:0013569 Tags
Green Green List (high evidence)	WNT10B Hand and foot malformations v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Split-hand/foot malformation 6 225300 Tags
Green Green List (high evidence)	WNT5A Hand and foot malformations v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Robinow syndrome, autosomal dominant 1 180700 Tags
Green Green List (high evidence)	WNT7A Radial Ray Abnormalities v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Fuhrmann syndrome, MIM# 228930 Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820 Tags
Green Green List (high evidence)	WNT7A Polydactyly v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Santos syndrome, MIM# 613005 Fuhrmann syndrome 228930 Tags
Green Green List (high evidence)	ZIC3 Radial Ray Abnormalities v2.1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations VACTERL association, X-linked 314390 Tags
Green Green List (high evidence)	ZRSR2 Polydactyly v1.20	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Orofaciodigital syndrome XXI, MIM# 301132 Tags
Green Green List (high evidence)	ZSWIM6 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Amber Amber List (moderate evidence)	CD96 Polydactyly v1.20	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Victorian Clinical Genetics Services Disease associations C syndrome, MIM#211750 Tags
Amber Amber List (moderate evidence)	CHUK Hand and foot malformations v1.12	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Disease associations ?Popliteal pterygium syndrome, Bartsocas-Papas type 2 MIM#619339 Cocoon syndrome MIM#613630 Tags
Amber Amber List (moderate evidence)	EFCAB7 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Polydactyly (MONDO:0021003), EFCAB7-related Tags
Amber Amber List (moderate evidence)	FMN1 Hand and foot malformations v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations oligosyndactyly radioulnar synostosis hearing loss renal defects Tags SV/CNV
Amber Amber List (moderate evidence)	HDAC4 Hand and foot malformations v1.12	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Disease associations Albright hereditary osteodystrophy-like syndrome Brachydactyly-intellectual disability Tags SV/CNV
Amber Amber List (moderate evidence)	HOXD12 Hand and foot malformations v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Disease associations Clubfoot (non-syndromic) MONDO:0007342 Tags
Amber Amber List (moderate evidence)	IFT57 Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Bardet-Bield syndrome ciliopathy - MONDO:0005308 Tags
Amber Amber List (moderate evidence)	PDE6D Polydactyly v1.20	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Joubert syndrome 22, OMIM #615665 Tags
Amber Amber List (moderate evidence)	RAD51 Radial Ray Abnormalities v2.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Disease associations Fanconi anaemia, complementation group R, MIM# 617244 Tags
Amber Amber List (moderate evidence)	RFWD3 Radial Ray Abnormalities v2.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Fanconi anemia MONDO:0019391 Tags
Amber Amber List (moderate evidence)	RPS29 Radial Ray Abnormalities v2.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 13, MIM# 615909 Tags
Amber Amber List (moderate evidence)	SLC30A7 Polydactyly v1.20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Joubert syndrome (MONDO:0018772), SLC30A7-related Tags
Amber Amber List (moderate evidence)	TOPORS Polydactyly v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations MONDO:0005308 ciliopathy postaxial polydactyly multiple lingual hamartomas dysmorphic features Tags
Red Red List (low evidence)	AHI1 Polydactyly v1.20	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Joubert syndrome 3, MIM# 608629 Tags
Red Red List (low evidence)	ALMS1 Polydactyly v1.20	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Alstrom syndrome, MIM#203800 Tags
Red Red List (low evidence)	ALX3 Polydactyly v1.20	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Frontonasal dysplasia 1, MIM#136760 Tags
Red Red List (low evidence)	ARMC8 Polydactyly v1.20	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DACT1 Radial Ray Abnormalities v2.1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Disease associations ?Townes-Brocks syndrome 2 (OMIM #617466) Tags
Red Red List (low evidence)	DLX6 Hand and foot malformations v1.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Split-hand/foot malformation 1 183600 Tags
Red Red List (low evidence)	FANCM Radial Ray Abnormalities v2.1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Fanconi anaemia Tags refuted
Red Red List (low evidence)	FBLN1 Hand and foot malformations v1.12	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 Tags
Red Red List (low evidence)	FBXW4 Hand and foot malformations v1.12	1 review 1 red	Unknown	Sources Expert Review Red Expert list Disease associations Split-hand/foot malformation 3 syndrome 246560 Tags
Red Red List (low evidence)	GATA1 Radial Ray Abnormalities v2.1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	IFT57 Hand and foot malformations v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations ?Orofaciodigital syndrome XVIII MIM#617927 Tags
Red Red List (low evidence)	LRP4 Polydactyly v1.20	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cenani-Lenz syndactyly syndrome, MIM# 212780 Sclerosteosis 2, MIM# 614305 Tags
Red Red List (low evidence)	LTBP2 Hand and foot malformations v1.12	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Weill-Marchesani Tags
Red Red List (low evidence)	MBTPS2 Polydactyly v1.20	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PNPLA6 Polydactyly v1.20	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Laurence-Moon syndrome - MIM#245800 Boucher-Neuhauser syndrome - MIM#215470 Oliver-McFarlane syndrome - #275400 Spastic paraplegia 39, autosomal recessive - #612020 Tags
Red Red List (low evidence)	PROM1 Polydactyly v1.20	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cone-rod dystrophy 12, MIM# 612657 Macular dystrophy, retinal, 2, MIM# 608051 Retinitis pigmentosa 41, MIM# 612095 Stargardt disease 4, MIM# 603786 Tags
Red Red List (low evidence)	RPS28 Radial Ray Abnormalities v2.1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Tags
Red Red List (low evidence)	SDCCAG8 Polydactyly v1.20	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 16, MIM# 615993 Tags
Red Red List (low evidence)	TBX22 Polydactyly v1.20	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cleft palate with ankyloglossia, MIM# 303400 Abruzzo-Erickson syndrome, MIM# 302905 Tags
Red Red List (low evidence)	TRIM32 Polydactyly v1.20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 11, MIM# 615988 Tags
Red Red List (low evidence)	WNT3 Hand and foot malformations v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Tetra-amelia syndrome 273395 Tags
Red Red List (low evidence)	ZIC3_VACTERLX_GCC STR Radial Ray Abnormalities v2.1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Literature Disease associations VACTERL association, X-linked MIM#314390 Tags paediatric-onset
Red Red List (low evidence)	ZNF141 Polydactyly v1.20	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Polydactyly, postaxial, type A6, MIM# 615226 Tags

Limb and Digital Malformations SuperPanel (Version 0.169)

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2 reviews

Sources

Disease associations

Tags

2 reviews

Sources

Disease associations

Tags