Hand and foot malformations (Version 1.12)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 114 Entitiess
Green Green List (high evidence)	10q24 duplication syndrome Split hand foot malformation 3 10q24 duplication syndrome Split hand foot malformation 3 Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Split-hand/foot malformation 3, gene duplication syndrome, MIM#246560 Tags
Green Green List (high evidence)	ACVR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Fibrodysplasia ossificans progressiva 135100 Tags clinical trial
Green Green List (high evidence)	ADAMTS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Weill-Marchesani syndrome 1, recessive, 277600 Tags
Green Green List (high evidence)	ADAMTS17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Weill-Marchesani syndrome type 4 Tags
Green Green List (high evidence)	AFF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Other Victorian Clinical Genetics Services Phenotypes CHOPS syndrome MIM#616368 Tags
Green Green List (high evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes KBG syndrome 148050 Tags
Green Green List (high evidence)	ARHGAP31	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 1 100300 Tags
Green Green List (high evidence)	ARID1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Coffin-Siris Tags
Green Green List (high evidence)	ARID1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Coffin-Siris syndrome type 1 - 135900 Tags
Green Green List (high evidence)	B3GLCT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 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)	BMP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes 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	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Brachydactyly, type A2 MIM#112600 Tags regulatory region
Green Green List (high evidence)	BMPR1B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Acromesomelic dysplasia, Demirhan type 609441 Brachydactyly, type A1, D 616849 Brachydactyly, type A2 112600 Tags
Green Green List (high evidence)	CACNA1C	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Timothy syndrome MIM#601005 Tags
Green Green List (high evidence)	CCNQ	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 Phenotypes syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408 Tags
Green Green List (high evidence)	CDH3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 Tags
Green Green List (high evidence)	CHSY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Temtamy preaxial brachydactyly syndrome 605282 Tags
Green Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Rubinstein-Taybi syndrome 180849 Tags
Green Green List (high evidence)	DHCR7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome 270400 Tags
Green Green List (high evidence)	DHODH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Miller syndrome (postaxial acrofacial dysostosis) 263750 Tags
Green Green List (high evidence)	DLL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Adams-Oliver syndrome 6, 616589 Tags
Green Green List (high evidence)	DLX5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Split-hand/foot malformation 1 with sensorineural hearing loss 220600 Tags
Green Green List (high evidence)	DLX5 downstream regulatory region DLX5 downstream regulatory region Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Split-hand/foot malformation 1 MIM#183600 Tags regulatory region
Green Green List (high evidence)	DOCK6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Adams-Oliver syndrome 2 614219 Tags
Green Green List (high evidence)	DPF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Coffin-Siris syndrome 7 MIM#618027 Tags
Green Green List (high evidence)	DVL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Robinow syndrome, autosomal dominant 2, MIM# 616331 Tags
Green Green List (high evidence)	DVL3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Robinow syndrome, autosomal dominant 3, 616894 Tags
Green Green List (high evidence)	DYNC1I1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related Tags SV/CNV
Green Green List (high evidence)	EOGT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Adams Oliver syndrome 4 Tags
Green Green List (high evidence)	EP300	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Rubinstein-Taybi syndrome 180849 Tags
Green Green List (high evidence)	ESCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes SC phocomelia syndrome 269000 Roberts syndrome 268300 Tags
Green Green List (high evidence)	FAT1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Focal segmental glomerulosclerosis (MONDO:0100313), FAT1-related Tags
Green Green List (high evidence)	FBN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes 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)	FGF9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple synostoses syndrome type 3 612961 Tags
Green Green List (high evidence)	FIG4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Yunis-Varon syndrome 216340 Amyotrophic lateral sclerosis 11 612577 Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes 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)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, FLVCR1-related Tags
Green Green List (high evidence)	FZD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Autosomal dominant omodysplasia 164745 Autosomal dominant omodysplasia type 2 164745 Tags
Green Green List (high evidence)	GDF5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple synostoses syndrome type 4 - 617898. Klippel-Feil syndrome 1, autosomal dominant 118100 Tags
Green Green List (high evidence)	GJA1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 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)	GNAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Phenotypes 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)	GSC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471 Tags
Green Green List (high evidence)	HDAC8	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Wilson-Turner syndrome 309585 Cornelia de Lange syndrome 5 300882 Tags
Green Green List (high evidence)	HOXA13_HFGS_GCN1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HOXA13_HFGS_GCN2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HOXD13	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 Phenotypes 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_SPD1_GCG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Synpolydactyly 1 MIM#186000 Tags paediatric-onset
Green Green List (high evidence)	IHH	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Brachydactyly, type A1 112500 Acrocapitofemoral dysplasia 607778 Tags
Green Green List (high evidence)	IHH upstream regulatory region IHH upstream regulatory region Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Craniosynostosis, Philadelphia type, with syndactyly, MIM#185900 Syndactyly, type 1, MIM#185900 Tags regulatory region
Green Green List (high evidence)	2q37.3 deletion syndrome ISCA-37394-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes 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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndactyly, type IV, MIM# 186200 limb anomalies congenital heart disease congenital anomalies Tags regulatory region
Green Green List (high evidence)	KDM6A	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 Phenotypes Kabuki syndrome 2 MIM#300867 Tags
Green Green List (high evidence)	KMT2A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Wiedemann-Steiner syndrome MIM#605130 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Kabuki syndrome 1 - 147920 Tags
Green Green List (high evidence)	LRP4	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sclerosteosis 2 614305 Cenani-Lenz syndactyly syndrome 212780 Tags
Green Green List (high evidence)	LTBP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Geleophysic dysplasia 3 617809 Dental anomalies and short stature 610216 Tags
Green Green List (high evidence)	MGP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Keutel syndrome 245150 Tags
Green Green List (high evidence)	MYCN	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Megalencephaly-polydactyly syndrome, MIM# 620748 Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 Tags
Green Green List (high evidence)	NECTIN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060 Tags
Green Green List (high evidence)	NECTIN4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ectodermal dysplasia-syndactyly syndrome 1 MIM#613573 Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cornelia de Lange syndrome 1 122470 Tags
Green Green List (high evidence)	NOG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes NOG-related symphalangism spectrum disorder MONDO:0100521 Tags
Green Green List (high evidence)	NOTCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes 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)	NSDHL	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green NHS GMS Phenotypes CK syndrome 300831 Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 Tags
Green Green List (high evidence)	NXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal recessive 2 MIM#618529 Tags
Green Green List (high evidence)	PDE3A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hypertension and brachydactyly syndrome, 112410 Tags
Green Green List (high evidence)	PDE4D	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Acrodysostosis 2, with or without hormone resistance 614613 Tags
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 23 615816 Tags
Green Green List (high evidence)	PHF6	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 Phenotypes Borjeson-Forssman-Lehmann syndrome MIM#301900 Tags
Green Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300 Tags
Green Green List (high evidence)	PITX1 upstream regulatory region PITX1 upstream regulatory region Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Liebenberg syndrome, MIM#186550 Tags regulatory region
Green Green List (high evidence)	POLR1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Acrofacial dysostosis, Cincinnati type 616462 Tags
Green Green List (high evidence)	PRKAR1A	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Tags
Green Green List (high evidence)	PRMT9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PRMT9-related Tags
Green Green List (high evidence)	PTDSS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Lenz-Majewski hyperostotic dwarfism 151050 Tags
Green Green List (high evidence)	PTHLH	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Brachydactyly, type E2 613382 Tags
Green Green List (high evidence)	RAD21	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 4 614701 Tags
Green Green List (high evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopenia-absent radius syndrome 274000 Tags
Green Green List (high evidence)	RBPJ	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Adams-Oliver syndrome 3, 614814 Tags
Green Green List (high evidence)	RECQL4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Rothmund-Thomson syndrome 268400 RAPILINO syndrome 266280 Baller-Gerold syndrome 218600 Tags
Green Green List (high evidence)	ROR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal recessive 268310 Brachydactyly, type B1 113000 Tags
Green Green List (high evidence)	S1PR2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sensorineural hearing loss disorder MONDO:0020678, S1PR2-related Congenital limb malformation, MONDO:0019054, S1PR2-related Tags
Green Green List (high evidence)	SETD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 23 (MIM#615761) Tags
Green Green List (high evidence)	SF3B4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Acrofacial dysostosis 1, Nager type 154400 Tags
Green Green List (high evidence)	SMAD4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Myhre syndrome 139210 Tags
Green Green List (high evidence)	SMARCA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Nicolaides-Baraitser syndrome MIM#601358 Tags
Green Green List (high evidence)	SMARCA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Coffin-Siris syndrome 4 MIM#614609 Tags
Green Green List (high evidence)	SMARCB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Coffin-Siris syndrome 3 MIM#614608 Tags
Green Green List (high evidence)	SMARCE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Coffin-Siris syndrome 5 MIM#616938 Tags
Green Green List (high evidence)	SMC1A	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2 300590 Tags
Green Green List (high evidence)	SMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cornelia de Lange syndrome 3 610759 Tags
Green Green List (high evidence)	SOST	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Van Buchem disease 239100 Sclerosteosis 1 269500 Craniodiaphyseal dysplasia, autosomal dominant 122860 Tags
Green Green List (high evidence)	SOX9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Campomelic dysplasia with autosomal sex reversal 114290 Tags
Green Green List (high evidence)	TBX15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cousin syndrome 260660 Tags
Green Green List (high evidence)	TGDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Catel-Manzke syndrome 616145 Tags
Green Green List (high evidence)	TP63	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 Tags
Green Green List (high evidence)	TRPS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichorhinophalangeal syndrome, type III 190351 Trichorhinophalangeal syndrome, type I 190350 Tags
Green Green List (high evidence)	TRPV4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	UBA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes ACCES syndrome, MIM# 619959 Split-Hand/Foot Malformation Aplasia Cutis Congenita Ectrodactyly Tags
Green Green List (high evidence)	VCP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Adams-Oliver syndrome MONDO:0007034, VCP-related Tags
Green Green List (high evidence)	WNT10B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Split-hand/foot malformation 6 225300 Tags
Green Green List (high evidence)	WNT5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow syndrome, autosomal dominant 1 180700 Tags
Amber Amber List (moderate evidence)	CHUK	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes ?Popliteal pterygium syndrome, Bartsocas-Papas type 2 MIM#619339 Cocoon syndrome MIM#613630 Tags
Amber Amber List (moderate evidence)	FMN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes oligosyndactyly radioulnar synostosis hearing loss renal defects Tags SV/CNV
Amber Amber List (moderate evidence)	HDAC4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes Albright hereditary osteodystrophy-like syndrome Brachydactyly-intellectual disability Tags SV/CNV
Amber Amber List (moderate evidence)	HOXD12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Clubfoot (non-syndromic) MONDO:0007342 Tags
Red Red List (low evidence)	DLX6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Split-hand/foot malformation 1 183600 Tags
Red Red List (low evidence)	FBLN1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 Tags
Red Red List (low evidence)	FBXW4	1 review 1 red	Unknown	Sources Expert list Expert Review Red Phenotypes Split-hand/foot malformation 3 syndrome 246560 Tags
Red Red List (low evidence)	IFT57	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Orofaciodigital syndrome XVIII MIM#617927 Tags
Red Red List (low evidence)	LTBP2	2 reviews 1 green 1 red	Unknown	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Weill-Marchesani Tags
Red Red List (low evidence)	WNT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Tetra-amelia syndrome 273395 Tags

Hand and foot malformations (Version 1.12)

17 reviewers

114 Entities

81 reviewed, 104 green

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

0 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags