Polydactyly (Version 0.281)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 138 Entitiess
Green List (high evidence)	AHI1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3, MIM# 608629 Tags
Green List (high evidence)	AKT3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Tags
Green List (high evidence)	ARL6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green List (high evidence)	B9D2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, MIM#614175 Meckel syndrome 10, MIM#614175 Tags
Green List (high evidence)	BBS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, MIM# 209900 Tags
Green List (high evidence)	BBS10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	BBS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	BBS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	BBS4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 4, MIM#615982 MONDO:0014433 Tags
Green List (high evidence)	BBS5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green List (high evidence)	BBS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green List (high evidence)	BBS9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 9, MIM#615986 MONDO:0014437 Tags
Green List (high evidence)	BHLHA9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432 Tags
Green List (high evidence)	BMP4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C2CD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	C5orf42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 17, MIM# 614615 MONDO:0013824 Orofaciodigital syndrome VI, MIM# 277170 Tags new gene name
Green List (high evidence)	CC2D2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CCND2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CENPF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CEP120	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Tags
Green List (high evidence)	CEP164	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome Nephronophthisis 15, MIM# 614845 Oro-facio-digital syndrome Tags
Green List (high evidence)	CEP290	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CEP41	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CKAP2L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CSPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 21, MIM# 615636 MONDO:0014288 Tags
Green List (high evidence)	DDX59	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome V (MIM#174300) Tags
Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Smith-Lemli-Opitz syndrome - MIM#270400 Tags
Green List (high evidence)	DYNC2H1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127 Tags
Green List (high evidence)	DYNC2LI1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088) Tags
Green List (high evidence)	EBP	1 review	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 Tags
Green List (high evidence)	EVC	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	EVC2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FGF10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FGFR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FGFR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FGFR3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FRAS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FREM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GDF5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GLI1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polydactyly, postaxial, type A8 MIM#618123 Polydactyly, preaxial I MIM#174400 Tags
Green List (high evidence)	GLI2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GLI3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 List (high evidence)	GPC3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	GRIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HMGB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 Tags
Green List (high evidence)	HNRNPK	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HOXA13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HOXD13	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Synpolydactyly 1, MIM# 186000 Tags
Green List (high evidence)	ICK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Endocrine-cerebroosteodysplasia, MIM# 612651 Tags
Green List (high evidence)	IFT140	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 Tags
Green List (high evidence)	IFT172	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IFT27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IFT43	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IFT52	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102 Tags
Green List (high evidence)	IFT80	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	INPP5E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IQCE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Postaxial polydactyly Tags
Green List (high evidence)	KIAA0586	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	KIAA0825	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polydactyly, postaxial, type A10, MIM# 618498 Tags
Green List (high evidence)	KIF7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LBR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Greenberg skeletal dysplasia, MIM# 215140 Tags
Green List (high evidence)	LEF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease, MONDO:0002254, LEF1-related Tags
Green List (high evidence)	LMBR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polydactyly, preaxial type II, MIM# 174500 Tags
Green List (high evidence)	LZTFL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MAP3K20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Split-foot malformation with mesoaxial polydactyly MIM#616890 Tags
Green List (high evidence)	MAPKAPK5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurocardiofaciodigital syndrome, MIM# 619869 Tags
Green List (high evidence)	MAX	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Polydactyly-macrocephaly syndrome, MIM# 620712 Tags
Green List (high evidence)	MBTPS2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MEGF8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MKKS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MKS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MYCN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephaly-polydactyly syndrome, MIM# 620748 Tags
Green List (high evidence)	NEK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Tags
Green List (high evidence)	NPHP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	OFD1	1 review	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 Tags
Green List (high evidence)	PIK3CA	2 reviews	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501 Tags somatic
Green List (high evidence)	PIK3R2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PITX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PORCN	1 review	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 Tags
Green List (high evidence)	PRKACA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 1, MIM# 619142 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability Tags
Green List (high evidence)	PRKACB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 2, MIM# 619143 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability Tags
Green List (high evidence)	RAB23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	RAB34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome 20, MIM#620718 Tags
Green List (high evidence)	RBM10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	RPGRIP1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SALL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SALL4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SC5D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SCNM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome XIX, MIM# 620107 Tags
Green List (high evidence)	SHH	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SMO	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, congenital heart disease, polydactyly, aganglionosis Pallister-Hall-like syndrome , MIM#241800 Curry-Jones syndrome, somatic mosaic 601707 Tags
Green List (high evidence)	SMOC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SPINT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420 MONDO:0010036 Tags founder
Green List (high evidence)	TBX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TBX5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TCTEX1D2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405 Tags
Green List (high evidence)	TCTN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green List (high evidence)	TCTN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TFAP2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TFAP2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TMEM107	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Meckel syndrome 13 MIM#617562 Orofaciodigital syndrome XVI MIM#617563 Tags
Green List (high evidence)	TMEM138	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TMEM216	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TMEM231	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TMEM237	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 14, MIM# 614424 Tags
Green List (high evidence)	TMEM67	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TRAF3IP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green List (high evidence)	TTC21B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TTC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green List (high evidence)	TWIST1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Robinow-Sorauf syndrome, MIM# 180750 Tags
Green List (high evidence)	UBE3B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485 Tags
Green List (high evidence)	USP9X	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 Phenotypes Intellectual developmental disorder 99 MIM#300919 syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Tags
Green List (high evidence)	WDPCP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 15, MIM# 615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green List (high evidence)	WDR19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	WDR34	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	WDR35	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cranioectodermal dysplasia 2, MIM#613610 MONDO:0013323 Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091 MONDO:0013569 Tags
Green List (high evidence)	WDR60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Retinitis pigmentosa Tags
Green List (high evidence)	WNT7A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Santos syndrome, MIM# 613005 Fuhrmann syndrome 228930 Tags
Green List (high evidence)	ZRSR2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome XXI, MIM# 301132 Tags
Green List (high evidence)	ZSWIM6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Amber List (moderate evidence)	CD96	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes C syndrome, MIM#211750 Tags
Amber List (moderate evidence)	EFCAB7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Polydactyly (MONDO:0021003), EFCAB7-related Tags
Amber List (moderate evidence)	FAM92A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Polydactyly, postaxial, type A9, MIM# 618219 Tags
Amber List (moderate evidence)	HYLS1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hydrolethalus syndrome (MIM#236680) Tags founder
Amber List (moderate evidence)	PDE6D	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Joubert syndrome 22, OMIM #615665 Tags
Amber List (moderate evidence)	SLC30A7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Joubert syndrome (MONDO:0018772), SLC30A7-related Tags
Amber List (moderate evidence)	TOPORS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes MONDO:0005308 ciliopathy postaxial polydactyly multiple lingual hamartomas dysmorphic features Tags
Red List (low evidence)	ALMS1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, MIM#203800 Tags
Red List (low evidence)	ALX3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Frontonasal dysplasia 1, MIM#136760 Tags
Red List (low evidence)	ARMC8	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	B9D1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Joubert syndrome 27, MIM#617120 Meckel syndrome 9, MIM#614209 Tags
Red List (low evidence)	LRP4	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cenani-Lenz syndactyly syndrome, MIM# 212780 Sclerosteosis 2, MIM# 614305 Tags
Red List (low evidence)	PNPLA6	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Laurence-Moon syndrome - MIM#245800 Boucher-Neuhauser syndrome - MIM#215470 Oliver-McFarlane syndrome - #275400 Spastic paraplegia 39, autosomal recessive - #612020 Tags
Red List (low evidence)	PROM1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 12, MIM# 612657 Macular dystrophy, retinal, 2, MIM# 608051 Retinitis pigmentosa 41, MIM# 612095 Stargardt disease 4, MIM# 603786 Tags
Red List (low evidence)	SDCCAG8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 16, MIM# 615993 Tags
Red List (low evidence)	TBX22	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cleft palate with ankyloglossia, MIM# 303400 Abruzzo-Erickson syndrome, MIM# 302905 Tags
Red List (low evidence)	TRIM32	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 11, MIM# 615988 Tags
Red List (low evidence)	ZNF141	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Polydactyly, postaxial, type A6, MIM# 615226 Tags

Polydactyly (Version 0.281)

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