Clefting disorders (Version 0.260)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 306 Entities
Green Green List (high evidence)	ACTB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BRWS1 BARAITSER-WINTER SYNDROME 1 Tags
Green Green List (high evidence)	ACTG1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME 2 BRWS2 Tags
Green Green List (high evidence)	ALX1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Frontonasal dysplasia 3, MIM#613456 severe facial clefting Tags
Green Green List (high evidence)	AMER1	0 reviews	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 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS OSCS Cleft palate Tags
Green Green List (high evidence)	AMOTL1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Orofacial clefting syndrome, MONDO:0015335, AMOTL1 -related Tags
Green Green List (high evidence)	ANKRD11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome Orofacial Clefting with skeletal features KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism) Tags
Green Green List (high evidence)	ARCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164 Tags
Green Green List (high evidence)	ARHGAP29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Victorian Clinical Genetics Services Phenotypes Clefting disorder, MONDO:0000358, ARHGAP29-related Tags
Green Green List (high evidence)	ARHGAP31	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes AOS1 ADAMS-OLIVER SYNDROME 1 Tags
Green Green List (high evidence)	ASXL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BOPS BOHRING-OPITZ SYNDROME Tags
Green Green List (high evidence)	B3GLCT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PETERS-PLUS SYNDROME Tags
Green Green List (high evidence)	BCOR	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes MCOPS2 MICROPHTHALMIA, SYNDROMIC 2 Tags
Green Green List (high evidence)	BMP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 Cleft palate Tags
Green Green List (high evidence)	BMP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Orofacial cleft 11 600625 Microphthalmia, syndromic 6, MIM# 607932 Tags
Green Green List (high evidence)	C2CD3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OFD14 OROFACIODIGITAL SYNDROME XIV Tags
Green Green List (high evidence)	C5orf42	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OFD6 OROFACIODIGITAL SYNDROME VI Tags
Green Green List (high evidence)	CC2D2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes MKS6 Meckel-Gruber syndrome Meckel syndrome 6, 612284 Tags
Green Green List (high evidence)	CDH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Blepharocheilodontic syndrome 1, MIM# 119580 Tags
Green Green List (high evidence)	CDKN1C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Phenotypes BECKWITH-WIEDEMANN SYNDROME BWS Tags
Green Green List (high evidence)	CHD7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CHARGE SYNDROME Tags
Green Green List (high evidence)	CHRNG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE Multiple pterygium syndrome, lethal type, 253290 Escobar syndrome, 265000 Tags
Green Green List (high evidence)	CHST14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 EDSMC1 Tags
Green Green List (high evidence)	CNTNAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hypomyelinating neuropathy, congenital, 3, OMIM:618186 Tags
Green Green List (high evidence)	COL11A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Orofacial Clefting with skeletal features Stickler Syndrome Cleft palate Tags
Green Green List (high evidence)	COL11A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Cleft palate OSMED STL3 Stickler syndrome, type III Non-ocular Stickler syndrome STICKLER SYNDROME, NONOCULAR TYPE Tags
Green Green List (high evidence)	COL2A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes STL1 Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss) Stickler sydrome, type I, non syndromic ocular Cleft palate STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM STICKLER SYNDROME, TYPE I Orofacial Clefting with skeletal features Stickler Syndrome STICKLER SYNDROME, TYPE I (STL1), 108300 STICKLER SYNDROME, VITREOUS TYPE 1 Tags
Green Green List (high evidence)	COL9A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Autosomal recessive Stickler syndrome Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms Orofacial Clefting with skeletal features Cleft palate Tags
Green Green List (high evidence)	COLEC10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC SYNDROME 3 3MC3 Tags
Green Green List (high evidence)	COLEC11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC2 3MC SYNDROME 2 Tags
Green Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Menke-Hennekam syndrome 1, MIM# 618332 Tags
Green Green List (high evidence)	CTCF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Mental retardation, autosomal dominant 21 (MIM#615502) Tags
Green Green List (high evidence)	CTNND1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Blepharocheilodontic syndrome 2, MIM# 617681 Tags
Green Green List (high evidence)	DHCR7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SMITH-LEMLI-OPITZ SYNDROME SLOS Tags
Green Green List (high evidence)	DHODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Miller syndrome, MIM# 263750 Tags
Green Green List (high evidence)	DLL4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME Tags
Green Green List (high evidence)	DOCK6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME Tags
Green Green List (high evidence)	DVL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes DRS2 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 Tags
Green Green List (high evidence)	DVL3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Robinow syndrome, autosomal dominant 3, 616894 Tags
Green Green List (high evidence)	DYNC2H1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY SRTD3 Tags
Green Green List (high evidence)	DYNC2LI1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY SRTD15 Tags
Green Green List (high evidence)	EBP	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MEND SYNDROME MEND Tags
Green Green List (high evidence)	EDNRA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA MFDA Cleft palate Tags
Green Green List (high evidence)	EFNB1	1 review	Other	Sources Expert Review Green Phenotypes CRANIOFRONTONASAL SYNDROME CFNS Tags
Green Green List (high evidence)	EFTUD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE MFDGA Tags
Green Green List (high evidence)	EIF2S3	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MRXSBRK MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE Tags
Green Green List (high evidence)	EIF3F	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes EIF3F-related neurodevelopmental disorder Mental retardation, autosomal recessive 67, MIM# 618295 Tags
Green Green List (high evidence)	EIF4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Richieri-Costa-Pereira syndrome Robin sequence with cleft mandible and limb anomalies, 268305 Cleft palate Tags STR
Green Green List (high evidence)	EOGT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME Tags
Green Green List (high evidence)	EPG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Vici syndrome, 242840 Tags
Green Green List (high evidence)	ESCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Juberg-Hayward syndrome, MIM# 216100 Roberts-SC phocomelia syndrome, MIM#268300 Tags
Green Green List (high evidence)	EYA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes BOR1 BRANCHIOOTORENAL SYNDROME 1 Tags
Green Green List (high evidence)	FAM20C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Raine syndrome, 259775 Tags
Green Green List (high evidence)	FGD1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes AARSKOG-SCOTT SYNDROME AAS Tags
Green Green List (high evidence)	FGFR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Kallmann syndrome 2 Hartsfield syndrome, 615465 Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 Tags
Green Green List (high evidence)	FGFR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes APERT SYNDROME Tags
Green Green List (high evidence)	FLNA	0 reviews	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 UKGTN Phenotypes OTOPALATODIGITAL SYNDROME, TYPE I Otopalatodigital syndrome, type II, 304120 (includes clefting) Orofacial Clefting with skeletal anomalies OPD1, OTOPALATODIGITAL SYNDROME, TYPE II OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1 FMD1 Melnick-Needles syndrome, 309350 (includes clefting) Otopalatodigital syndrome, type I, 311300 (includes clefting) Tags
Green Green List (high evidence)	FLNB	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460 Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720 Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721 Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250 Orofacial Clefting with skeletal features Skeletal dysplasia with midline cleft palate Tags
Green Green List (high evidence)	FOXC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cleft palate LYMPHEDEMA-DISTICHIASIS SYNDROME Tags
Green Green List (high evidence)	FOXE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bamforth-Lazarus syndrome, OMIM #241850 Tags
Green Green List (high evidence)	FRAS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Fraser syndrome, 219000 Tags
Green Green List (high evidence)	GDF11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122 Tags
Green Green List (high evidence)	GJA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Oculodentodigital dysplasia,164200 ODDD Tags
Green Green List (high evidence)	GLI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Culler-Jones syndrome, OMIM:615849 Holoprosencephaly 9, OMIM:610829 Tags
Green Green List (high evidence)	GLI3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pallister-Hall syndrome, 146510 Tags
Green Green List (high evidence)	GNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 Tags
Green Green List (high evidence)	GPC3	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 SGBS1 Tags
Green Green List (high evidence)	GRHL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Van der Woude syndrome 2 MIM#606713 Tags
Green Green List (high evidence)	HDAC8	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes CDLS5 CORNELIA DE LANGE SYNDROME 5 Tags
Green Green List (high evidence)	HNRNPK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Au-Kline syndrome MIM#616580 Tags
Green Green List (high evidence)	HYAL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063 Tags
Green Green List (high evidence)	HYLS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hydrolethalus syndrome, 236680 (includes Cleft palate, Lateral or midline cleft lip, Lower lip cleft) Tags
Green Green List (high evidence)	ICK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ECO Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate) Tags
Green Green List (high evidence)	IFT140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY SRTD9 Tags
Green Green List (high evidence)	IFT172	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SRTD10 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY Tags
Green Green List (high evidence)	IFT80	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY SRTD2 Tags
Green Green List (high evidence)	IGF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Literature Phenotypes Silver-Russell syndrome 3 MIM#616489 Tags
Green Green List (high evidence)	IMPAD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate) Tags
Green Green List (high evidence)	INTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oral-facial-digital syndrome, MONDO:0015375, INTS13-related Tags
Green Green List (high evidence)	IRF6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes lip pits Cleft palate Orofacial cleft 6, 608864 VWS1, POPLITEAL PTERYGIUM SYNDROME Cleft Lip with or without Cleft Palate VAN DER WOUDE SYNDROME 1 PPS Cleft lip +/- palate- unilateral or bilateral Orofacial Clefting with skeletal features cleft palate Tags
Green Green List (high evidence)	KAT6A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 MRD32 Tags
Green Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Genitopatellar syndrome, OMIM:606170 SBBYSS syndrome, OMIM:603736 Tags
Green Green List (high evidence)	KCNJ2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Cleft palate Tags
Green Green List (high evidence)	KDM6A	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Kabuki syndrome 2, 300867 Tags
Green Green List (high evidence)	KIAA0586	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SRTD14 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY Tags
Green Green List (high evidence)	KIF1BP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GOSHS Goldberg-Shprintzen megacolon syndrome, 609460 Tags
Green Green List (high evidence)	KIF7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ACLS ACROCALLOSAL SYNDROME Tags
Green Green List (high evidence)	KMT2D	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Kabuki syndrome 1, 147920 Tags
Green Green List (high evidence)	MAP3K7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes AD-FMD Frontometaphyseal dysplasia 2, 617137 autosomal dominant FMD FMD2 Tags
Green Green List (high evidence)	MAPRE2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 CSCSC2 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC syndrome 1, MIM# 257920 MONDO:0009770 Tags
Green Green List (high evidence)	MBTPS2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME Tags
Green Green List (high evidence)	MED12	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520 OKS submucous cleft palate Hardikar syndrome, MIM# 301068 Tags
Green Green List (high evidence)	MEIS2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes intellectual disability cardiac defects Orofacial clefting Cleft palate Tags
Green Green List (high evidence)	MID1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes OPITZ GBBB SYNDROME, TYPE I GBBB1 Tags
Green Green List (high evidence)	MKS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Meckel syndrome 1, 249000 Meckel-Gruber Syndrome (MGS) MKS1 Tags
Green Green List (high evidence)	MSX1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 Orofacial cleft 5, 608874 Cleft lip CLP with dental anomalies Tags
Green Green List (high evidence)	MYMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome, MIM# 254940 Tags
Green Green List (high evidence)	NECTIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060 Zlotogora-Ogur syndrome Tags
Green Green List (high evidence)	NEDD4L	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Periventricular nodular heterotopia 7 (includes clefting), 617201 Cleft palate Cleft palate, toe syndactyly, periventricular nodular heterotopia Tags
Green Green List (high evidence)	NEK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Orofaciodigital syndrome II , MIM# 252100 Tags
Green Green List (high evidence)	NIPBL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CDLS1 CORNELIA DE LANGE SYNDROME 1 Tags
Green Green List (high evidence)	NOTCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME Tags
Green Green List (high evidence)	OFD1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes OROFACIODIGITAL SYNDROME I OFD1 Tags
Green Green List (high evidence)	PAX3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes WAARDENBURG Tags
Green Green List (high evidence)	PGAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716 Tags
Green Green List (high evidence)	PGM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It 614921 Cleft palate Tags
Green Green List (high evidence)	PHF8	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 Tags
Green Green List (high evidence)	PIEZO2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MWKS DA3, MARDEN-WALKER SYNDROME ARTHROGRYPOSIS, DISTAL, TYPE 3 Tags
Green Green List (high evidence)	PIGN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 MCAHS1 Tags
Green Green List (high evidence)	PIGV	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 HPMRS1 Tags
Green Green List (high evidence)	PLCB4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Auriculocondylar syndrome 2A, MIM# 614669 Auriculocondylar syndrome 2B, MIM# 620458 Cleft palate Tags
Green Green List (high evidence)	POLR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Acrofacial dysostosis, Cincinnati type MIM#616462 Tags
Green Green List (high evidence)	POLR1C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes TREACHER COLLINS SYNDROME 3 TCS3 Tags
Green Green List (high evidence)	POLR1D	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes TCS2 TREACHER COLLINS SYNDROME 2 Tags
Green Green List (high evidence)	PORCN	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes GOLTZ SYNDROME Focal dermal hypoplasia, 305600 Tags
Green Green List (high evidence)	PPP1R13L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 Tags
Green Green List (high evidence)	PTCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes HPE7 BCNS, HOLOPROSENCEPHALY 7 BASAL CELL NEVUS SYNDROME Tags
Green Green List (high evidence)	RAB34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome 20, MIM#620718 Tags
Green Green List (high evidence)	RBM10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes TARP syndrome, MIM# 311900 Tags
Green Green List (high evidence)	RIC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cleft lip/palate MONDO:0016044, RIC1-related Tags
Green Green List (high evidence)	RIPK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650 Tags
Green Green List (high evidence)	ROR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ROBINOW SYNDROME, AUTOSOMAL RECESSIVE RRS Tags
Green Green List (high evidence)	RPL5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DIAMOND-BLACKFAN ANEMIA 6 Cleft palate DBA6 Tags
Green Green List (high evidence)	RPS26	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DBA10 DIAMOND-BLACKFAN ANEMIA 10 Cleft palate Tags
Green Green List (high evidence)	RSPO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Tetraamelia syndrome 2, MIM# 618021 Cleft lip and palate Tags
Green Green List (high evidence)	SALL4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes DUANE-RADIAL RAY SYNDROME DRRS Tags
Green Green List (high evidence)	SATB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Glass syndrome, MIM# 612313 MONDO:0100147 Tags
Green Green List (high evidence)	SCARF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VDEGS VAN DEN ENDE-GUPTA SYNDROME Tags
Green Green List (high evidence)	SF3B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Craniofacial microsomia, MIM#164210 Tags
Green Green List (high evidence)	SF3B4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ACROFACIAL DYSOSTOSIS 1, NAGER TYPE AFD1 Tags
Green Green List (high evidence)	SHH	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes HOLOPROSENCEPHALY 3 HPE3 Tags
Green Green List (high evidence)	SIX1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BOS3 BRANCHIOOTIC SYNDROME 3 Tags
Green Green List (high evidence)	SIX3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes HOLOPROSENCEPHALY 2 HPE2 Tags
Green Green List (high evidence)	SKI	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME SGS Tags
Green Green List (high evidence)	SLC26A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes De la Chapelle dysplasia (includes clefting), 256050 DIASTROPHIC DYSPLASIA Diastrophic dysplasia (includes clefting), 222600 Atelosteogenesis II (includes clefting), 256050 DTD Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600 McAlister Dysplasia Orofacial Clefting with skeletal features Tags
Green Green List (high evidence)	SMAD3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME 3 LDS3 Tags
Green Green List (high evidence)	SMAD4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MYHRE SYNDROME MYHRS Tags
Green Green List (high evidence)	SMARCA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Coffin-Siris syndrome 4, MIM# 614609 Tags
Green Green List (high evidence)	SMC1A	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes CDLS2 CORNELIA DE LANGE SYNDROME 2 Tags
Green Green List (high evidence)	SMC3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CORNELIA DE LANGE SYNDROME 3 CDLS3 Tags
Green Green List (high evidence)	SMS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583 Syndromic X-linked intellectual disability Snyder type, MONDO:0010664 Tags
Green Green List (high evidence)	SNRPB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CEREBROCOSTOMANDIBULAR SYNDROME CCMS Cleft palate Tags
Green Green List (high evidence)	SON	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ZTTK SYNDROME ZTTKS Tags
Green Green List (high evidence)	SOX9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes CAMPOMELIC DYSPLASIA,114290 Campomelic dysplasia with autosomal sex reversal, 114290 CAMPOMELIC DYSPLASIA Cleft palate Cleft palate with skeletal abnormalities Orofacial Clefting with Skeletal Features Acampomelic campomelic dysplasia, 114290 Tags
Green Green List (high evidence)	SPECC1L	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes GBBB2 ?Facial clefting, oblique, 1, 600251 Opitz GBBB syndrome, type II (with clefting), 145410 OPITZ GBBB SYNDROME, TYPE II Tags
Green Green List (high evidence)	STAG2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Phenotypes Mullegama-Klein-Martinez syndrome, MIM#301022 Tags
Green Green List (high evidence)	STAMBP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MICCAP MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Tags
Green Green List (high evidence)	TBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Velocardiofacial syndrome, MIM# 192430 Cleft palate Tags SV/CNV
Green Green List (high evidence)	TBX22	0 reviews	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 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cleft palate with ankyloglossia, 303400 Cleft palate CPX cleft lip palate CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED sub mucous cleft Tags
Green Green List (high evidence)	TCOF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes TREACHER COLLINS SYNDROME 1 TCS1 Tags
Green Green List (high evidence)	TCTN3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OFD4 OROFACIODIGITAL SYNDROME IV Tags
Green Green List (high evidence)	TELO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes YHFS YOU-HOOVER-FONG SYNDROME Tags
Green Green List (high evidence)	TFAP2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes BRANCHIOOCULOFACIAL SYNDROME BOFS Cleft lip Tags
Green Green List (high evidence)	TGDS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CATEL-MANZKE SYNDROME Cleft palate CATMANS Tags
Green Green List (high evidence)	TGFB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes LDS5 LOEYS-DIETZ SYNDROME 5 Tags
Green Green List (high evidence)	TGFBR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME 1 LDS1 Tags
Green Green List (high evidence)	TGFBR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Loeys-Dietz syndrome Loeys-Dietz syndrome 2, 610168 Tags
Green Green List (high evidence)	TMCO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME CFSMR Cleft palate Tags
Green Green List (high evidence)	TP63	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400 EEC3 Limb-mammary syndrome, 603543 AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260 EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting) ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 Cleft lip Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292 Tags
Green Green List (high evidence)	TRAPPC9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 MRT13 Tags
Green Green List (high evidence)	TRIM37	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MULIBREY NANISM Tags
Green Green List (high evidence)	TRRAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developmental delay with or without dysmorphic facies and autism, MIM# 618454 Tags
Green Green List (high evidence)	TUBB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CSCSC1 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 Tags
Green Green List (high evidence)	TXNL4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags 5'UTR SV/CNV
Green Green List (high evidence)	USP9X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder 99 MIM#300919 syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Tags
Green Green List (high evidence)	WNT5A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes DRS1 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 Tags
Green Green List (high evidence)	XYLT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DESBUQUOIS DYSPLASIA 2 DBQD2 Tags
Green Green List (high evidence)	YAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433 Tags
Green Green List (high evidence)	ZC4H2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Phenotypes Wieacker-Wolff syndrome, MIM# 314580 Tags
Green Green List (high evidence)	ZEB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Mowat-Wilson syndrome, MIM# 235730 MONDO:0009341 Tags
Green Green List (high evidence)	ZIC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes HOLOPROSENCEPHALY 5 HPE5 Tags
Green Green List (high evidence)	ZIC3	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS VACTERLX Tags
Green 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 Green List (high evidence)	ZSWIM6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes AFND ACROMELIC FRONTONASAL DYSOSTOSIS Tags
Amber Amber List (moderate evidence)	ALX3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Frontonasal dysplasia 1, MIM# 136760 Frontorhiny Tags
Amber Amber List (moderate evidence)	ANKRD17	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Chopra-Amiel-Gordan syndrome, MIM# 619504 Intellectual disability dysmorphic features Tags
Amber Amber List (moderate evidence)	ARHGEF38	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Cleft lip/palate MONDO:0016044, ARHGEF38-related Tags
Amber Amber List (moderate evidence)	ARID1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Coffin-Siris syndrome 2 (MIM#614607) Tags
Amber Amber List (moderate evidence)	ARID1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Coffin-Siris syndrome 1, OMIM:135900 Tags
Amber Amber List (moderate evidence)	ATR	0 reviews	Unknown	Sources Expert Review Amber Phenotypes SECKEL SYNDROME 1 SCKL1 Tags
Amber Amber List (moderate evidence)	AUTS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Tags
Amber Amber List (moderate evidence)	B3GALT6	0 reviews	Unknown	Sources Expert Review Amber Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES Ehlers-Danlos syndrome, progeroid type, 2 615349 SEMDJL1 Tags
Amber Amber List (moderate evidence)	B4GALT7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 Tags
Amber Amber List (moderate evidence)	BUB1B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MVA1 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 Tags
Amber Amber List (moderate evidence)	CDC45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Meier-Gorlin syndrome 7, 617063 MGORS7 Tags
Amber Amber List (moderate evidence)	CHD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Sifrim-Hitz-Weiss syndrome, MIM 617159 Tags
Amber Amber List (moderate evidence)	COBLL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Cleft lip/palate MONDO:0016044, COBLL1-related Tags
Amber Amber List (moderate evidence)	COL9A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type V, MIM# 614284 Tags
Amber Amber List (moderate evidence)	COL9A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type VI, MIM# 620022 Tags
Amber Amber List (moderate evidence)	CRELD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Tags
Amber Amber List (moderate evidence)	DDX3X	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes MRX102 MENTAL RETARDATION, X-LINKED 102 Tags
Amber Amber List (moderate evidence)	DDX59	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes OROFACIODIGITAL SYNDROME V OFD5 Tags
Amber Amber List (moderate evidence)	EDN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Auriculocondylar syndrome 3, MIM# 615706 Cleft palate Tags
Amber Amber List (moderate evidence)	ESRP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes cleft lip Tags
Amber Amber List (moderate evidence)	FBRSL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Malformation and intellectual disability syndrome Cleft palate Tags
Amber Amber List (moderate evidence)	FBXO11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 cleft lip Tags
Amber Amber List (moderate evidence)	FGFR3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Muenke syndrome, OMIM:602849 Hypochondroplasia, OMIM:146000 Tags
Amber Amber List (moderate evidence)	FTO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Growth retardation, developmental delay, facial dysmorphism, 612938 Lethal polymalformative syndrome, Boissel type Tags
Amber Amber List (moderate evidence)	GATA3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes HDR syndrome Barakat syndrome Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 Tags
Amber Amber List (moderate evidence)	IFT52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY SRTD16 Tags
Amber Amber List (moderate evidence)	KAT5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103 Tags
Amber Amber List (moderate evidence)	KDM1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Cleft palate,psychomotor retardation,distinctive facial features, 616728 Tags
Amber Amber List (moderate evidence)	KMT2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Wiedemann-Steiner syndrome, OMIM:605130 Tags
Amber Amber List (moderate evidence)	LMNA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes RESTRICTIVE DERMOPATHY, LETHAL Tags
Amber Amber List (moderate evidence)	LRP6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes cleft lip cleft palate tooth agenesis oligodontia Tags
Amber Amber List (moderate evidence)	LRRC32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Tags
Amber Amber List (moderate evidence)	MED13L	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789 Cleft palate MRFACD Tags
Amber Amber List (moderate evidence)	MED25	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME BVSYS Tags
Amber Amber List (moderate evidence)	MEOX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE KFS2 Tags
Amber Amber List (moderate evidence)	MN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cleft palate CEBALID syndrome, MIM# 618774 Tags
Amber Amber List (moderate evidence)	NOTCH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Hajdu-Cheney syndrome, OMIM:102500 Tags
Amber Amber List (moderate evidence)	PHGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes NEU-LAXOVA SYNDROME 1 NLS1 Tags
Amber Amber List (moderate evidence)	PLCH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Holoprosencephaly 14, MIM# 619895 Tags
Amber Amber List (moderate evidence)	PLEKHA5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Literature Phenotypes Cleft lip and palate Tags
Amber Amber List (moderate evidence)	PLEKHA7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Cleft lip and palate Tags
Amber Amber List (moderate evidence)	POGZ	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes White-Sutton syndrome, MIM# 616364 Tags
Amber Amber List (moderate evidence)	RARB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MICROPHTHALMIA, SYNDROMIC 12 MCOPS12 Tags
Amber Amber List (moderate evidence)	RBPJ	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes ADAMS-OLIVER SYNDROME Tags
Amber Amber List (moderate evidence)	RPL11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Diamond-Blackfan anemia 7, MIM# 612562 Cleft palate Tags
Amber Amber List (moderate evidence)	RPS28	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Cleft palate Tags
Amber Amber List (moderate evidence)	SCUBE3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184 Tags
Amber Amber List (moderate evidence)	SEC23A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes CLSD CRANIOLENTICULOSUTURAL DYSPLASIA Tags
Amber Amber List (moderate evidence)	SEPT9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes HNA Amyotrophy, hereditary neuralgic, MIM# 162100 Tags 5'UTR founder new gene name SV/CNV
Amber Amber List (moderate evidence)	SHROOM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Anencephaly cleft lip and palate Tags
Amber Amber List (moderate evidence)	SMARCB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Coffin-Siris syndrome 3, OMIM:614608 Tags
Amber Amber List (moderate evidence)	SMG9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes HBMS HEART AND BRAIN MALFORMATION SYNDROME Tags
Amber Amber List (moderate evidence)	TBX15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes COUSIN SYNDROME Tags
Amber Amber List (moderate evidence)	TTC21B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY SRTD4 Tags
Amber Amber List (moderate evidence)	UBE3B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Kaufman oculocerebrofacial syndrome, OMIM:244450 Tags
Amber Amber List (moderate evidence)	WDR19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SRTD5 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY Tags
Amber Amber List (moderate evidence)	WDR34	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SRTD11 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY Tags
Amber Amber List (moderate evidence)	WDR35	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY SRTD7 Tags
Amber Amber List (moderate evidence)	WDR60	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SRTD8 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY Tags
Amber Amber List (moderate evidence)	ZMPSTE24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes RESTRICTIVE DERMOPATHY, LETHAL Tags
Red Red List (low evidence)	ACBD5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Retinal dystrophy with leukodystrophy, MIM# 618863 Cleft palate Tags
Red Red List (low evidence)	AFDN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Cleft lip/palate, MONDO:0016044, AFDN-related Tags
Red Red List (low evidence)	ALG9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes GILLESSEN-KAESBACH-NISHIMURA SYNDROME GIKANIS Tags
Red Red List (low evidence)	ATRX	0 reviews	Unknown	Sources Expert Review Red Phenotypes MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 MRXHF1 Tags
Red Red List (low evidence)	B3GAT3	0 reviews	Unknown	Sources Expert Review Red Phenotypes JDSCD MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS Tags
Red Red List (low evidence)	CANT1	0 reviews	Unknown	Sources Expert Review Red Phenotypes DBQD1 DESBUQUOIS DYSPLASIA 1 Tags
Red Red List (low evidence)	CASK	0 reviews	Unknown	Sources Expert Review Red Phenotypes MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA MICPCH Tags
Red Red List (low evidence)	CHD1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cleft palate Tags
Red Red List (low evidence)	CHSY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Temtamy preaxial brachydactyly syndrome, 605282 TPBS Tags
Red Red List (low evidence)	CKAP2L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Filippi syndrome, 272440 Tags
Red Red List (low evidence)	DIS3L2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Perlman syndrome, 267000 Tags
Red Red List (low evidence)	DLG1	0 reviews	Unknown	Sources Expert Review Red Literature Phenotypes Non-syndromic cleft lip with or without cleft palate Tags
Red Red List (low evidence)	DLX4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Orofacial cleft 15, MIM# 616788 Tags
Red Red List (low evidence)	DNMT3B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000 Tags
Red Red List (low evidence)	FAM111A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes 602361 Gracile bone dysplasia Tags
Red Red List (low evidence)	FANCL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group L, 614083 Tags
Red Red List (low evidence)	FOXP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Speech-language disorder-1, MIM# 602081 Tags
Red Red List (low evidence)	FREM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Fraser syndrome, 219000 Tags
Red Red List (low evidence)	FST	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes orofacial clefting Tags
Red Red List (low evidence)	GATA6	0 reviews	Unknown	Sources Expert Review Red Phenotypes CTHM CONOTRUNCAL HEART MALFORMATIONS Tags
Red Red List (low evidence)	GDF1	0 reviews	Unknown	Sources Expert Review Red Phenotypes CTHM CONOTRUNCAL HEART MALFORMATIONS Tags
Red Red List (low evidence)	GMNN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Meier-Gorlin syndrome 6, 616835 Tags
Red Red List (low evidence)	GNAI3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Auriculocondylar syndrome 1, OMIM #602483 Tags
Red Red List (low evidence)	GRIP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Fraser syndrome, 219000 Tags
Red Red List (low evidence)	HOXA2	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Victorian Clinical Genetics Services Phenotypes Ear anomalies and orofacial clefting Microtia, Hearing Impairment, and Cleft Palate Cleft palate ?Microtia with or without hearing impairment (includes clefting), 612290, (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown) ?Microtia with or without hearing impairment (includes clefting), 612290, (BIALLELIC, autosomal or pseudoautosomal) Tags
Red Red List (low evidence)	INTS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 Cleft palate Tags
Red Red List (low evidence)	KANSL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes KDVS Koolen-De Vries syndrome, 610443 Tags
Red Red List (low evidence)	KIF22	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes SEMDJL2 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 Tags
Red Red List (low evidence)	LMX1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Nail-patella syndrome, 161200 Tags
Red Red List (low evidence)	METTL23	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mental retardation, autosomal recessive 44, 615942 MRT44 Tags
Red Red List (low evidence)	MYCN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes cleft lip with or without cleft palate, MONDO:0016034 Tags
Red Red List (low evidence)	NBN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Nijmegen breakage syndrome, 251260 NBS Tags
Red Red List (low evidence)	NKX2-5	0 reviews	Unknown	Sources Expert Review Red Phenotypes CTHM CONOTRUNCAL HEART MALFORMATIONS Tags
Red Red List (low evidence)	NKX2-6	0 reviews	Unknown	Sources Expert Review Red Phenotypes CTHM CONOTRUNCAL HEART MALFORMATIONS Tags
Red Red List (low evidence)	NSDHL	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS Tags
Red Red List (low evidence)	PGAP2	0 reviews	Unknown	Sources Expert Review Red Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 HPMRS3 Tags
Red Red List (low evidence)	PIGA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes MCAHS2 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 Tags
Red Red List (low evidence)	PIGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes CHIME COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME Tags
Red Red List (low evidence)	PIK3R2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes MPPH1 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 Tags
Red Red List (low evidence)	POMT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 Tags
Red Red List (low evidence)	POMT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 Tags
Red Red List (low evidence)	PQBP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Renpenning syndrome, 309500 Tags
Red Red List (low evidence)	PSAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neu-Laxova syndrome 2, 616038 Tags
Red Red List (low evidence)	PTDSS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes broad prominent forehead delayed closure of the fontanelles dental enamel hypoplasia growth restriction Lenz-Majewski hyperostotic dwarfism, 151050 choanal atresia proximal symphalangism cutis laxa progressive sclerosis and hyperostosis of skull, vertebra and tubular bones brachydactyly of fingers and toes Tags
Red Red List (low evidence)	RAI1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes SMS SMITH-MAGENIS SYNDROME Tags
Red Red List (low evidence)	RBM8A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes TAR THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Tags
Red Red List (low evidence)	RPS17	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes DIAMOND-BLACKFAN ANEMIA 4 DBA4 Tags
Red Red List (low evidence)	RPS19	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes DBA1 DIAMOND-BLACKFAN ANEMIA 1 Tags
Red Red List (low evidence)	RYR1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes RYR1-related myopathy - MONDO:0100150 Tags
Red Red List (low evidence)	SEC24D	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Cleft lip with or without cleft palate, MONDO:0016034, SEC24D-related Tags
Red Red List (low evidence)	SELENOI	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Cleft palate developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures bifid uvula in some affected individuals Tags
Red Red List (low evidence)	SIX5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Branchiootorenal syndrome 2, MIM# 610896 Tags
Red Red List (low evidence)	SMAD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Loeys-Dietz syndrome Tags
Red Red List (low evidence)	SMOC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MLA MICROPHTHALMIA WITH LIMB ANOMALIES Tags
Red Red List (low evidence)	SOX2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes MICROPHTHALMIA, SYNDROMIC 3 MCOPS3 Tags
Red Red List (low evidence)	STIL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE MCPH7 Tags
Red Red List (low evidence)	STRA6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MCOPS9 MICROPHTHALMIA, SYNDROMIC 9 Tags
Red Red List (low evidence)	STXBP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes EIEE4 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 Tags
Red Red List (low evidence)	SUMO1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cleft Lip with or without Cleft Palate Orofacial cleft 10, 613705 Tags
Red Red List (low evidence)	TAF11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes cleft lip MONDO:0004747 Tags
Red Red List (low evidence)	TBX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223 Tags
Red Red List (low evidence)	TFAP2B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Char syndrome, MIM# 169100 Tags
Red Red List (low evidence)	TGFB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Loeys-Dietz syndrome 4, 614816 Tags
Red Red List (low evidence)	TOGARAM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Cleft of the lip and palate Microphthalmia Cerebral dysgenesis Hydrocephalus Tags
Red Red List (low evidence)	TSR2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 Cleft palate Tags
Red Red List (low evidence)	TWIST2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes BARBER-SAY SYNDROME BBRSAY Tags
Red Red List (low evidence)	UQCC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 MC3DN7 Tags
Red Red List (low evidence)	VAX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MCOPS11 MICROPHTHALMIA, SYNDROMIC 11 Tags
Red Red List (low evidence)	WASHC5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes RTSC1 RITSCHER-SCHINZEL SYNDROME 1 Tags
Red Red List (low evidence)	WNT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE TETAMS Tags
Red Red List (low evidence)	ZBTB24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069 Tags
Red Red List (low evidence)	ZNF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hydrocephalus cleft palate microphthalmia Tags

Clefting disorders (Version 0.260)

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