Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ACTB	gene	ACTB	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	BRWS1;BARAITSER-WINTER SYNDROME 1				22366783		False	3	0;0;0	0.260	False		ENSG00000075624	ENSG00000075624	HGNC:132													
ACTG1	gene	ACTG1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	BARAITSER-WINTER SYNDROME 2;BRWS2				22366783		False	3	0;0;0	0.260	False		ENSG00000184009	ENSG00000184009	HGNC:144													
ALX1	gene	ALX1	Expert list;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Frontonasal dysplasia 3, MIM#613456;severe facial clefting				26610632;20451171;27324866		False	3	100;0;0	0.260	True		ENSG00000180318	ENSG00000180318	HGNC:1494													
AMER1	gene	AMER1	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS;OSCS;Cleft palate						False	3	0;0;0	0.260	False		ENSG00000184675	ENSG00000184675	HGNC:26837													
AMOTL1	gene	AMOTL1	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Orofacial clefting syndrome, MONDO:0015335, AMOTL1 -related				33026150;36751037		False	3	50;0;50	0.260	True		ENSG00000166025	ENSG00000166025	HGNC:17811													
ANKRD11	gene	ANKRD11	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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)				25838844;2705097;21782149;27900361		False	3	0;0;0	0.260	False		ENSG00000167522	ENSG00000167522	HGNC:21316													
ARCN1	gene	ARCN1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay  617164				27476655;35300924		False	3	100;0;0	0.260	True		ENSG00000095139	ENSG00000095139	HGNC:649													
ARHGAP29	gene	ARHGAP29	Expert Review Green;Research;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Clefting disorder, MONDO:0000358, ARHGAP29-related				23008150;27369588;25704602;27350171;25512736;27033726;28029220		False	3	100;0;0	0.260	True		ENSG00000137962	ENSG00000137962	HGNC:30207													
ARHGAP31	gene	ARHGAP31	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	AOS1;ADAMS-OLIVER SYNDROME 1						False	3	0;0;0	0.260	False		ENSG00000031081	ENSG00000031081	HGNC:29216													
ASXL1	gene	ASXL1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	BOPS;BOHRING-OPITZ SYNDROME						False	3	0;0;0	0.260	False		ENSG00000171456	ENSG00000171456	HGNC:18318													
B3GLCT	gene	B3GLCT	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	PETERS-PLUS SYNDROME						False	3	0;0;0	0.260	False		ENSG00000187676	ENSG00000187676	HGNC:20207													
BCOR	gene	BCOR	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	MCOPS2;MICROPHTHALMIA, SYNDROMIC 2						False	3	0;0;0	0.260	False		ENSG00000183337	ENSG00000183337	HGNC:20893													
BMP2	gene	BMP2	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877;Cleft palate				29198724;21671386		False	3	0;0;0	0.260	False		ENSG00000125845	ENSG00000125845	HGNC:1069													
BMP4	gene	BMP4	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Orofacial cleft 11 600625;Microphthalmia, syndromic 6, MIM# 607932				31053785;19249007;31909686		False	3	100;0;0	0.260	True		ENSG00000125378	ENSG00000125378	HGNC:1071													
C2CD3	gene	C2CD3	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	OFD14;OROFACIODIGITAL SYNDROME XIV						False	3	0;0;0	0.260	False		ENSG00000168014	ENSG00000168014	HGNC:24564													
C5orf42	gene	C5orf42	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	OFD6;OROFACIODIGITAL SYNDROME VI						False	3	0;0;0	0.260	False		ENSG00000197603	ENSG00000197603	HGNC:25801													
CC2D2A	gene	CC2D2A	Expert list;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	MKS6;Meckel-Gruber syndrome;Meckel syndrome 6, 612284				18513680;19777577		False	3	0;0;0	0.260	False		ENSG00000048342	ENSG00000048342	HGNC:29253													
CDH1	gene	CDH1	Expert Review Green;Other	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Blepharocheilodontic syndrome 1, MIM# 119580				27566442;28301459		False	3	100;0;0	0.260	True		ENSG00000039068	ENSG00000039068	HGNC:1748													
CDKN1C	gene	CDKN1C	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	BECKWITH-WIEDEMANN SYNDROME;BWS				20503313		False	3	0;0;0	0.260	False		ENSG00000129757	ENSG00000129757	HGNC:1786													
CHD7	gene	CHD7	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CHARGE SYNDROME						False	3	0;0;0	0.260	False		ENSG00000171316	ENSG00000171316	HGNC:20626													
CHRNG	gene	CHRNG	Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE;MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE;Multiple pterygium syndrome, lethal type, 253290;Escobar syndrome, 265000				16826520;22167768;27843868		False	3	0;0;0	0.260	False		ENSG00000196811	ENSG00000196811	HGNC:1967													
CHST14	gene	CHST14	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1;EDSMC1						False	3	0;0;0	0.260	False		ENSG00000169105	ENSG00000169105	HGNC:24464													
CNTNAP1	gene	CNTNAP1	Expert Review;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Hypomyelinating neuropathy, congenital, 3, OMIM:618186				28374019;29511323;29882456;37010288		False	3	100;0;0	0.260	True		ENSG00000108797	ENSG00000108797	HGNC:8011													
COL11A1	gene	COL11A1	Eligibility statement prior genetic testing;Expert Review Green;UKGTN;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Orofacial Clefting with skeletal features;Stickler Syndrome;Cleft palate						False	3	0;0;0	0.260	False		ENSG00000060718	ENSG00000060718	HGNC:2186													
COL11A2	gene	COL11A2	Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cleft palate;OSMED;STL3;Stickler syndrome, type III;Non-ocular Stickler syndrome;STICKLER SYNDROME, NONOCULAR TYPE						False	3	0;0;0	0.260	False		ENSG00000204248	ENSG00000204248	HGNC:2187													
COL2A1	gene	COL2A1	Eligibility statement prior genetic testing;Expert Review Green;UKGTN;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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				16752401;17721977;1677770		False	3	0;0;0	0.260	False		ENSG00000139219	ENSG00000139219	HGNC:2200													
COL9A1	gene	COL9A1	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	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				16909383;21421862		False	3	0;0;0	0.260	False		ENSG00000112280	ENSG00000112280	HGNC:2217													
COLEC10	gene	COLEC10	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	3MC SYNDROME 3;3MC3				21258343		False	3	0;0;0	0.260	False		ENSG00000184374	ENSG00000184374	HGNC:2220													
COLEC11	gene	COLEC11	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	3MC2;3MC SYNDROME 2						False	3	0;0;0	0.260	False		ENSG00000118004	ENSG00000118004	HGNC:17213													
CREBBP	gene	CREBBP	Expert Review;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Menke-Hennekam syndrome 1, MIM# 618332				35626936		False	3	100;0;0	0.260	True		ENSG00000005339	ENSG00000005339	HGNC:2348													
CTCF	gene	CTCF	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mental retardation, autosomal dominant 21 (MIM#615502)				23746550;31239556		False	3	100;0;0	0.260	True		ENSG00000102974	ENSG00000102974	HGNC:13723													
CTNND1	gene	CTNND1	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Blepharocheilodontic syndrome 2, MIM# 617681				28301459;32196547		False	3	100;0;0	0.260	True		ENSG00000198561	ENSG00000198561	HGNC:2515													
DHCR7	gene	DHCR7	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SMITH-LEMLI-OPITZ SYNDROME;SLOS						False	3	0;0;0	0.260	False		ENSG00000172893	ENSG00000172893	HGNC:2860													
DHODH	gene	DHODH	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Miller syndrome, MIM# 263750				19915526;20220176;33262786;27370710		False	3	100;0;0	0.260	True		ENSG00000102967	ENSG00000102967	HGNC:2867													
DLL4	gene	DLL4	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	ADAMS-OLIVER SYNDROME						False	3	0;0;0	0.260	False		ENSG00000128917	ENSG00000128917	HGNC:2910													
DOCK6	gene	DOCK6	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	ADAMS-OLIVER SYNDROME						False	3	0;0;0	0.260	False		ENSG00000130158	ENSG00000130158	HGNC:19189													
DVL1	gene	DVL1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	DRS2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2						False	3	0;0;0	0.260	False		ENSG00000107404	ENSG00000107404	HGNC:3084													
DVL3	gene	DVL3	Expert Review Green;Other	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Robinow syndrome, autosomal dominant 3, 616894				26924530;29575616		False	3	0;0;0	0.260	False		ENSG00000161202	ENSG00000161202	HGNC:3087													
DYNC2H1	gene	DYNC2H1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY;SRTD3						False	3	0;0;0	0.260	False		ENSG00000187240	ENSG00000187240	HGNC:2962													
DYNC2LI1	gene	DYNC2LI1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY;SRTD15						False	3	0;0;0	0.260	False		ENSG00000138036	ENSG00000138036	HGNC:24595													
EBP	gene	EBP	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	MEND SYNDROME;MEND						False	3	0;0;0	0.260	False		ENSG00000147155	ENSG00000147155	HGNC:3133													
EDNRA	gene	EDNRA	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA;MFDA;Cleft palate						False	3	0;0;0	0.260	False		ENSG00000151617	ENSG00000151617	HGNC:3179													
EFNB1	gene	EFNB1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	Other	CRANIOFRONTONASAL SYNDROME;CFNS						False	3	0;0;0	0.260	False		ENSG00000090776	ENSG00000090776	HGNC:3226													
EFTUD2	gene	EFTUD2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE;MFDGA						False	3	0;0;0	0.260	False		ENSG00000108883	ENSG00000108883	HGNC:30858													
EIF2S3	gene	EIF2S3	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	MRXSBRK;MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE						False	3	0;0;0	0.260	False		ENSG00000130741	ENSG00000130741	HGNC:3267													
EIF3F	gene	EIF3F	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"EIF3F-related neurodevelopmental disorder;Mental retardation, autosomal recessive 67, MIM#	618295"				PMID: 33736665		False	3	100;0;0	0.260	True		ENSG00000175390	ENSG00000175390	HGNC:3275													
EIF4A3	gene	EIF4A3	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Richieri-Costa-Pereira syndrome;Robin sequence with cleft mandible and limb anomalies, 268305;Cleft palate				10594883;29112243;29922329;24360810		False	3	100;0;0	0.260	True		ENSG00000141543	ENSG00000141543	HGNC:18683													
EOGT	gene	EOGT	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	ADAMS-OLIVER SYNDROME						False	3	0;0;0	0.260	False		ENSG00000163378	ENSG00000163378	HGNC:28526													
EPG5	gene	EPG5	Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Vici syndrome, 242840				23222957;26927810;20583151;3344762;17163544		False	3	0;0;0	0.260	False		ENSG00000152223	ENSG00000152223	HGNC:29331													
ESCO2	gene	ESCO2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Juberg-Hayward syndrome, MIM# 216100;Roberts-SC phocomelia syndrome, MIM#268300				32977150		False	3	100;0;0	0.260	True		ENSG00000171320	ENSG00000171320	HGNC:27230													
EYA1	gene	EYA1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	BOR1;BRANCHIOOTORENAL SYNDROME 1						False	3	0;0;0	0.260	False		ENSG00000104313	ENSG00000104313	HGNC:3519													
FAM20C	gene	FAM20C	Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Raine syndrome, 259775				2194867118000911;2614802;25974638;17924334;10482879		False	3	0;0;0	0.260	False		ENSG00000177706	ENSG00000177706	HGNC:22140													
FGD1	gene	FGD1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	AARSKOG-SCOTT SYNDROME;AAS				20082460		False	3	0;0;0	0.260	False		ENSG00000102302	ENSG00000102302	HGNC:3663													
FGFR1	gene	FGFR1	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Kallmann syndrome 2;Hartsfield syndrome, 615465;Hypogonadotropic hypogonadism 2 with or without anosmia, 147950				19504604;25394172;1342859;16606836;14564207;12627230		False	3	0;0;0	0.260	False		ENSG00000077782	ENSG00000077782	HGNC:3688													
FGFR2	gene	FGFR2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	APERT SYNDROME						False	3	0;0;0	0.260	False		ENSG00000066468	ENSG00000066468	HGNC:3689													
FLNA	gene	FLNA	Expert Review Green;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	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)				10706363;20301567;12612583;16538226		False	3	0;0;0	0.260	False		ENSG00000196924	ENSG00000196924	HGNC:3754													
FLNB	gene	FLNB	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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						False	3	0;0;0	0.260	False		ENSG00000136068	ENSG00000136068	HGNC:3755													
FOXC2	gene	FOXC2	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cleft palate;LYMPHEDEMA-DISTICHIASIS SYNDROME						False	3	0;0;0	0.260	False		ENSG00000176692	ENSG00000176692	HGNC:3801													
FOXE1	gene	FOXE1	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Bamforth-Lazarus syndrome, OMIM #241850				9697705;12165566;16882747		False	3	100;0;0	0.260	True		ENSG00000178919	ENSG00000178919	HGNC:3806													
FRAS1	gene	FRAS1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome, 219000				17163535;16894541;18203166;18671281		False	3	0;0;0	0.260	False		ENSG00000138759	ENSG00000138759	HGNC:19185													
GDF11	gene	GDF11	Expert list;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122				31215115;34113007		False	3	50;50;0	0.260	True		ENSG00000135414	ENSG00000135414	HGNC:4216													
GJA1	gene	GJA1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Oculodentodigital dysplasia,164200;ODDD				1057461;12457340;19338053;15108203		False	3	0;0;0	0.260	False		ENSG00000152661	ENSG00000152661	HGNC:4274													
GLI2	gene	GLI2	Expert Review;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Culler-Jones syndrome, OMIM:615849;Holoprosencephaly 9, OMIM:610829				24744436;37010288		False	3	100;0;0	0.260	True		ENSG00000074047	ENSG00000074047	HGNC:4318													
GLI3	gene	GLI3	Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pallister-Hall syndrome, 146510				15739154;24736735;7211952;20301638;1605268		False	3	0;0;0	0.260	False		ENSG00000106571	ENSG00000106571	HGNC:4319													
GNB1	gene	GNB1	Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 42, MIM# 616973				27108799;32134617		False	3	100;0;0	0.260	True		ENSG00000078369	ENSG00000078369	HGNC:4396													
GPC3	gene	GPC3	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1;SGBS1						False	3	0;0;0	0.260	False		ENSG00000147257	ENSG00000147257	HGNC:4451													
GRHL3	gene	GRHL3	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Van der Woude syndrome 2 MIM#606713				24360809;29500247		False	3	100;0;0	0.260	True		ENSG00000158055	ENSG00000158055	HGNC:25839													
HDAC8	gene	HDAC8	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	CDLS5;CORNELIA DE LANGE SYNDROME 5						False	3	0;0;0	0.260	False		ENSG00000147099	ENSG00000147099	HGNC:13315													
HNRNPK	gene	HNRNPK	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Au-Kline syndrome MIM#616580						False	3	100;0;0	0.260	True		ENSG00000165119	ENSG00000165119	HGNC:5044													
HYAL2	gene	HYAL2	Expert list;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063				28081210;23172227;26515055;34906488		False	3	50;50;0	0.260	True		ENSG00000068001	ENSG00000068001	HGNC:5321													
HYLS1	gene	HYLS1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome, 236680 (includes Cleft palate, Lateral or midline cleft lip, Lower lip cleft)				3296755;22029171;8322817;15843405		False	3	0;0;0	0.260	False		ENSG00000198331	ENSG00000198331	HGNC:26558													
ICK	gene	ICK	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	ECO;Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate)				19185282;27069622;24853502		False	3	0;0;0	0.260	False		ENSG00000112144	ENSG00000112144	HGNC:21219													
IFT140	gene	IFT140	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY;SRTD9						False	3	0;0;0	0.260	False		ENSG00000187535	ENSG00000187535	HGNC:29077													
IFT172	gene	IFT172	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SRTD10;SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY						False	3	0;0;0	0.260	False		ENSG00000138002	ENSG00000138002	HGNC:30391													
IFT80	gene	IFT80	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY;SRTD2						False	3	0;0;0	0.260	False		ENSG00000068885	ENSG00000068885	HGNC:29262													
IGF2	gene	IGF2	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Silver-Russell syndrome 3 MIM#616489				PMID: 31544945		False	3	100;0;0	0.260	True		ENSG00000167244	ENSG00000167244	HGNC:5466													
IMPAD1	gene	IMPAD1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate)				22887726;21549340		False	3	0;0;0	0.260	False		ENSG00000104331	ENSG00000104331	HGNC:26019													
INTS13	gene	INTS13	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Oral-facial-digital syndrome, MONDO:0015375, INTS13-related				PMID: 36229431		False	3	100;0;0	0.260	True		ENSG00000064102	ENSG00000064102	HGNC:20174													
IRF6	gene	IRF6	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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						False	3	0;0;0	0.260	False		ENSG00000117595	ENSG00000117595	HGNC:6121													
KAT6A	gene	KAT6A	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	MENTAL RETARDATION, AUTOSOMAL DOMINANT 32;MRD32						False	3	0;0;0	0.260	False		ENSG00000083168	ENSG00000083168	HGNC:13013													
KAT6B	gene	KAT6B	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Genitopatellar syndrome, OMIM:606170;SBBYSS syndrome, OMIM:603736				20182757;27031267;32424177;37010288		False	3	100;0;0	0.260	True		ENSG00000156650	ENSG00000156650	HGNC:17582													
KCNJ2	gene	KCNJ2	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS;Cleft palate				12163457		False	3	0;0;0	0.260	False		ENSG00000123700	ENSG00000123700	HGNC:6263													
KDM6A	gene	KDM6A	Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Kabuki syndrome 2, 300867				24664873;22197486;23076834		False	3	0;0;0	0.260	False		ENSG00000147050	ENSG00000147050	HGNC:12637													
KIAA0586	gene	KIAA0586	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SRTD14;SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY						False	3	0;0;0	0.260	False		ENSG00000100578	ENSG00000100578	HGNC:19960													
KIF1BP	gene	KIF1BP	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	GOSHS;Goldberg-Shprintzen megacolon syndrome, 609460				16760737;7338549		False	3	0;0;0	0.260	False		ENSG00000198954	ENSG00000198954	HGNC:23419													
KIF7	gene	KIF7	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	ACLS;ACROCALLOSAL SYNDROME				21552264		False	3	0;0;0	0.260	False		ENSG00000166813	ENSG00000166813	HGNC:30497													
KMT2D	gene	KMT2D	Emory Genetics Laboratory;Expert Review;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kabuki syndrome 1, 147920				22126750;20711175;21671394;26049589;25142838		False	3	0;0;0	0.260	False		ENSG00000167548	ENSG00000167548	HGNC:7133													
MAP3K7	gene	MAP3K7	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	AD-FMD;Frontometaphyseal dysplasia 2, 617137;autosomal dominant FMD;FMD2				28498505;25899317		False	3	0;0;0	0.260	False		ENSG00000135341	ENSG00000135341	HGNC:6859													
MAPRE2	gene	MAPRE2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2;CSCSC2						False	3	0;0;0	0.260	False		ENSG00000166974	ENSG00000166974	HGNC:6891													
MASP1	gene	MASP1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	3MC syndrome 1, MIM# 257920;MONDO:0009770				26789649;21258343;21035106		False	3	100;0;0	0.260	True		ENSG00000127241	ENSG00000127241	HGNC:6901													
MBTPS2	gene	MBTPS2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME						False	3	0;0;0	0.260	False		ENSG00000012174	ENSG00000012174	HGNC:15455													
MED12	gene	MED12	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Opitz-Kaveggia syndrome, 305450;Lujan-Fryns syndrome,  309520;OKS;submucous cleft palate;Hardikar syndrome, MIM# 301068				12784307;33244166		False	3	100;0;0	0.260	True		ENSG00000184634	ENSG00000184634	HGNC:11957													
MEIS2	gene	MEIS2	Expert Review;Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability;cardiac defects;Orofacial clefting;Cleft palate				25712757;27225850;24678003		False	3	0;0;0	0.260	False		ENSG00000134138	ENSG00000134138	HGNC:7001													
MID1	gene	MID1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	OPITZ GBBB SYNDROME, TYPE I;GBBB1						False	3	0;0;0	0.260	False		ENSG00000101871	ENSG00000101871	HGNC:7095													
MKS1	gene	MKS1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 1, 249000;Meckel-Gruber Syndrome (MGS);MKS1				24643152;26037304;25182137		False	3	0;0;0	0.260	False		ENSG00000011143	ENSG00000011143	HGNC:7121													
MSX1	gene	MSX1	Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tooth agenesis, selective, 1, with or without orofacial cleft, 106600;Orofacial cleft 5, 608874;Cleft lip;CLP with dental anomalies				16498076;10742093;27228008;15264286;12097313;12807959;25565750		False	3	0;0;0	0.260	False		ENSG00000163132	ENSG00000163132	HGNC:7391													
MYMK	gene	MYMK	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Carey-Fineman-Ziter syndrome, MIM# 254940				28681861		False	3	100;0;0	0.260	True		ENSG00000187616	ENSG00000187616	HGNC:33778													
NECTIN1	gene	NECTIN1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060;Zlotogora-Ogur syndrome				10932188;26953873;11559849;25913853		False	3	100;0;0	0.260	True		ENSG00000110400	ENSG00000110400	HGNC:9706													
NEDD4L	gene	NEDD4L	Expert Review;Expert Review Green;Literature;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Periventricular nodular heterotopia 7 (includes clefting), 617201;Cleft palate;Cleft palate, toe syndactyly, periventricular nodular heterotopia				27694961		False	3	0;0;0	0.260	False		ENSG00000049759	ENSG00000049759	HGNC:7728													
NEK1	gene	NEK1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520;Orofaciodigital syndrome II , MIM# 252100				21211617;22499340;25492405;28123176;27530628		False	3	100;0;0	0.260	True		ENSG00000137601	ENSG00000137601	HGNC:7744													
NIPBL	gene	NIPBL	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CDLS1;CORNELIA DE LANGE SYNDROME 1						False	3	0;0;0	0.260	False		ENSG00000164190	ENSG00000164190	HGNC:28862													
NOTCH1	gene	NOTCH1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	ADAMS-OLIVER SYNDROME						False	3	0;0;0	0.260	False		ENSG00000148400	ENSG00000148400	HGNC:7881													
OFD1	gene	OFD1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	OROFACIODIGITAL SYNDROME I;OFD1						False	3	0;0;0	0.260	False		ENSG00000046651	ENSG00000046651	HGNC:2567													
PAX3	gene	PAX3	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	WAARDENBURG						False	3	0;0;0	0.260	False		ENSG00000135903	ENSG00000135903	HGNC:8617													
PGAP3	gene	PGAP3	Expert Review;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716				28390064;37010288		False	3	100;0;0	0.260	True		ENSG00000161395	ENSG00000161395	HGNC:23719													
PGM1	gene	PGM1	Expert list;Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Congenital disorder of glycosylation, type It	614921;Cleft palate"				31563034;26303607;24878975;27206562;29858906;32681750		False	3	100;0;0	0.260	True		ENSG00000079739	ENSG00000079739	HGNC:8905													
PHF8	gene	PHF8	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation syndrome, X-linked, Siderius type, 300263				17661819		False	3	100;0;0	0.260	True		ENSG00000172943	ENSG00000172943	HGNC:20672													
PIEZO2	gene	PIEZO2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	MWKS;DA3, MARDEN-WALKER SYNDROME;ARTHROGRYPOSIS, DISTAL, TYPE 3				24726473		False	3	0;0;0	0.260	False		ENSG00000154864	ENSG00000154864	HGNC:26270													
PIGN	gene	PIGN	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1;MCAHS1				27038415;24852103		False	3	0;0;0	0.260	False		ENSG00000197563	ENSG00000197563	HGNC:8967													
PIGV	gene	PIGV	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1;HPMRS1				24129430;21739589		False	3	0;0;0	0.260	False		ENSG00000060642	ENSG00000060642	HGNC:26031													
PLCB4	gene	PLCB4	Expert list;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Auriculocondylar syndrome 2A, MIM# 614669;Auriculocondylar syndrome 2B, MIM# 620458;Cleft palate				23315542;23913798		False	3	100;0;0	0.260	True	Other	ENSG00000101333	ENSG00000101333	HGNC:9059													
POLR1A	gene	POLR1A	Expert list;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acrofacial dysostosis, Cincinnati type MIM#616462				25913037		False	3	100;0;0	0.260	True		ENSG00000068654	ENSG00000068654	HGNC:17264													
POLR1C	gene	POLR1C	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	TREACHER COLLINS SYNDROME 3;TCS3						False	3	0;0;0	0.260	False		ENSG00000171453	ENSG00000171453	HGNC:20194													
POLR1D	gene	POLR1D	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	TCS2;TREACHER COLLINS SYNDROME 2						False	3	0;0;0	0.260	False		ENSG00000186184	ENSG00000186184	HGNC:20422													
PORCN	gene	PORCN	Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	GOLTZ SYNDROME;Focal dermal hypoplasia, 305600				12071796;21484999;20301712;10602117;13948891;18325042		False	3	0;0;0	0.260	False		ENSG00000102312	ENSG00000102312	HGNC:17652													
PPP1R13L	gene	PPP1R13L	Expert Review;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519				32666529;28864777		False	3	100;0;0	0.260	True		ENSG00000104881	ENSG00000104881	HGNC:18838													
PTCH1	gene	PTCH1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	HPE7;BCNS, HOLOPROSENCEPHALY 7;BASAL CELL NEVUS SYNDROME						False	3	0;0;0	0.260	False		ENSG00000185920	ENSG00000185920	HGNC:9585													
RAB34	gene	RAB34	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome 20, MIM#620718				PMID: 37384395		False	3	100;0;0	0.260	True		ENSG00000109113	ENSG00000109113	HGNC:16519													
RBM10	gene	RBM10	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	TARP syndrome, MIM# 311900				20451169;24259342;30450804;30189253;33340101		False	3	100;0;0	0.260	True		ENSG00000182872	ENSG00000182872	HGNC:9896													
RIC1	gene	RIC1	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cleft lip/palate MONDO:0016044, RIC1-related				36493769		False	3	100;0;0	0.260	True		ENSG00000107036	ENSG00000107036	HGNC:17686													
RIPK4	gene	RIPK4	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650				PMID: 28940926;22197489;22197488		False	3	100;0;0	0.260	True		ENSG00000183421	ENSG00000183421	HGNC:496													
ROR2	gene	ROR2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE;RRS						False	3	0;0;0	0.260	False		ENSG00000169071	ENSG00000169071	HGNC:10257													
RPL5	gene	RPL5	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	DIAMOND-BLACKFAN ANEMIA 6;Cleft palate;DBA6				19061985		False	3	0;0;0	0.260	False		ENSG00000122406	ENSG00000122406	HGNC:10360													
RPS26	gene	RPS26	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	DBA10;DIAMOND-BLACKFAN ANEMIA 10;Cleft palate				20116044		False	3	0;0;0	0.260	False		ENSG00000197728	ENSG00000197728	HGNC:10414													
RSPO2	gene	RSPO2	Expert list;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Tetraamelia syndrome 2, MIM# 618021;Cleft lip and palate				29769720;32457899		False	3	100;0;0	0.260	True		ENSG00000147655	ENSG00000147655	HGNC:28583													
SALL4	gene	SALL4	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	DUANE-RADIAL RAY SYNDROME;DRRS						False	3	0;0;0	0.260	False		ENSG00000101115	ENSG00000101115	HGNC:15924													
SATB2	gene	SATB2	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Glass syndrome, MIM# 612313;MONDO:0100147				16179223;29023086;28151491;32446642		False	3	100;0;0	0.260	True		ENSG00000119042	ENSG00000119042	HGNC:21637													
SCARF2	gene	SCARF2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	VDEGS;VAN DEN ENDE-GUPTA SYNDROME						False	3	0;0;0	0.260	False		ENSG00000244486	ENSG00000244486	HGNC:19869													
SF3B2	gene	SF3B2	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Craniofacial microsomia, MIM#164210				34344887		False	3	100;0;0	0.260	True		ENSG00000087365	ENSG00000087365	HGNC:10769													
SF3B4	gene	SF3B4	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	ACROFACIAL DYSOSTOSIS 1, NAGER TYPE;AFD1				22541558		False	3	0;0;0	0.260	False		ENSG00000143368	ENSG00000143368	HGNC:10771													
SHH	gene	SHH	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	HOLOPROSENCEPHALY 3;HPE3						False	3	0;0;0	0.260	False		ENSG00000164690	ENSG00000164690	HGNC:10848													
SIX1	gene	SIX1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	BOS3;BRANCHIOOTIC SYNDROME 3						False	3	0;0;0	0.260	False		ENSG00000126778	ENSG00000126778	HGNC:10887													
SIX3	gene	SIX3	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	HOLOPROSENCEPHALY 2;HPE2						False	3	0;0;0	0.260	False		ENSG00000138083	ENSG00000138083	HGNC:10889													
SKI	gene	SKI	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME;SGS						False	3	0;0;0	0.260	False		ENSG00000157933	ENSG00000157933	HGNC:10896													
SLC26A2	gene	SLC26A2	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	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				12866518;25667404;8931695;8571951;10465113;18708426;15316973;11565064;7923357		False	3	0;0;0	0.260	False		ENSG00000155850	ENSG00000155850	HGNC:10994													
SMAD3	gene	SMAD3	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	LOEYS-DIETZ SYNDROME 3;LDS3						False	3	0;0;0	0.260	False		ENSG00000166949	ENSG00000166949	HGNC:6769													
SMAD4	gene	SMAD4	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	MYHRE SYNDROME;MYHRS						False	3	0;0;0	0.260	False		ENSG00000141646	ENSG00000141646	HGNC:6770													
SMARCA4	gene	SMARCA4	Expert Review;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 4, MIM# 614609				25168959;37010288		False	3	100;0;0	0.260	True		ENSG00000127616	ENSG00000127616	HGNC:11100													
SMC1A	gene	SMC1A	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	CDLS2;CORNELIA DE LANGE SYNDROME 2						False	3	0;0;0	0.260	False		ENSG00000072501	ENSG00000072501	HGNC:11111													
SMC3	gene	SMC3	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CORNELIA DE LANGE SYNDROME 3;CDLS3						False	3	0;0;0	0.260	False		ENSG00000108055	ENSG00000108055	HGNC:2468													
SMS	gene	SMS	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583;Syndromic X-linked intellectual disability Snyder type, MONDO:0010664				30237987;34177437;32838743;23805436		False	3	100;0;0	0.260	True		ENSG00000102172	ENSG00000102172	HGNC:11123													
SNRPB	gene	SNRPB	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CEREBROCOSTOMANDIBULAR SYNDROME;CCMS;Cleft palate				25047197		False	3	0;0;0	0.260	False		ENSG00000125835	ENSG00000125835	HGNC:11153													
SON	gene	SON	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	ZTTK SYNDROME;ZTTKS				27545680		False	3	0;0;0	0.260	False		ENSG00000159140	ENSG00000159140	HGNC:11183													
SOX9	gene	SOX9	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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				7485151;7990924;24038782;12783851;19449405;15806394;8894698		False	3	0;0;0	0.260	False		ENSG00000125398	ENSG00000125398	HGNC:11204													
SPECC1L	gene	SPECC1L	Expert Review Green;Radboud University Medical Center, Nijmegen	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	GBBB2;?Facial clefting, oblique, 1, 600251;Opitz GBBB syndrome, type II (with clefting), 145410;OPITZ GBBB SYNDROME, TYPE II				8849002;21703590;25412741;1897571		False	3	0;0;0	0.260	False		ENSG00000100014	ENSG00000100014	HGNC:29022													
STAG2	gene	STAG2	Expert Review;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mullegama-Klein-Martinez syndrome, MIM#301022				28296084;29263825;30158690;31334757;33014403;37010288		False	3	100;0;0	0.260	True		ENSG00000101972	ENSG00000101972	HGNC:11355													
STAMBP	gene	STAMBP	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	MICCAP;MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME						False	3	0;0;0	0.260	False		ENSG00000124356	ENSG00000124356	HGNC:16950													
TBX1	gene	TBX1	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Velocardiofacial syndrome, MIM# 192430;Cleft palate				29500247		False	3	100;0;0	0.260	True		ENSG00000184058	ENSG00000184058	HGNC:11592													
TBX22	gene	TBX22	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Cleft palate with ankyloglossia, 303400;Cleft palate;CPX;cleft lip;palate;CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED;sub mucous cleft				19648124;17846996;21248356;12374769;11559848;19648291;22784330;14729838		False	3	0;0;0	0.260	False		ENSG00000122145	ENSG00000122145	HGNC:11600													
TCOF1	gene	TCOF1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	TREACHER COLLINS SYNDROME 1;TCS1						False	3	0;0;0	0.260	False		ENSG00000070814	ENSG00000070814	HGNC:11654													
TCTN3	gene	TCTN3	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	OFD4;OROFACIODIGITAL SYNDROME IV						False	3	0;0;0	0.260	False		ENSG00000119977	ENSG00000119977	HGNC:24519													
TELO2	gene	TELO2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	YHFS;YOU-HOOVER-FONG SYNDROME						False	3	0;0;0	0.260	False		ENSG00000100726	ENSG00000100726	HGNC:29099													
TFAP2A	gene	TFAP2A	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	BRANCHIOOCULOFACIAL SYNDROME;BOFS;Cleft lip				10767004		False	3	0;0;0	0.260	False		ENSG00000137203	ENSG00000137203	HGNC:11742													
TGDS	gene	TGDS	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	CATEL-MANZKE SYNDROME;Cleft palate;CATMANS				25480037		False	3	0;0;0	0.260	False		ENSG00000088451	ENSG00000088451	HGNC:20324													
TGFB3	gene	TGFB3	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	LDS5;LOEYS-DIETZ SYNDROME 5						False	3	0;0;0	0.260	False		ENSG00000119699	ENSG00000119699	HGNC:11769													
TGFBR1	gene	TGFBR1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	LOEYS-DIETZ SYNDROME 1;LDS1						False	3	0;0;0	0.260	False		ENSG00000106799	ENSG00000106799	HGNC:11772													
TGFBR2	gene	TGFBR2	Expert Review;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loeys-Dietz syndrome;Loeys-Dietz syndrome 2, 610168				12975342;15731757;16928994		False	3	0;0;0	0.260	False		ENSG00000163513	ENSG00000163513	HGNC:11773													
TMCO1	gene	TMCO1	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME;CFSMR;Cleft palate						False	3	0;0;0	0.260	False		ENSG00000143183	ENSG00000143183	HGNC:18188													
TP63	gene	TP63	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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						False	3	0;0;0	0.260	False		ENSG00000073282	ENSG00000073282	HGNC:15979													
TRAPPC9	gene	TRAPPC9	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13;MRT13				20004764		False	3	0;0;0	0.260	False		ENSG00000167632	ENSG00000167632	HGNC:30832													
TRIM37	gene	TRIM37	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	MULIBREY NANISM						False	3	0;0;0	0.260	False		ENSG00000108395	ENSG00000108395	HGNC:7523													
TRRAP	gene	TRRAP	Expert Review;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Developmental delay with or without dysmorphic facies and autism, MIM#	618454"				30827496		False	3	100;0;0	0.260	True		ENSG00000196367	ENSG00000196367	HGNC:12347													
TUBB	gene	TUBB	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CSCSC1;SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1						False	3	0;0;0	0.260	False		ENSG00000196230	ENSG00000196230	HGNC:20778													
TXNL4A	gene	TXNL4A	Expert Review Green;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Burn-McKeown syndrome, MIM# 608572;Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064				25434003		False	3	100;0;0	0.260	True		ENSG00000141759	ENSG00000141759	HGNC:30551													
USP9X	gene	USP9X	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Intellectual developmental disorder 99 MIM#300919;syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968				26833328		False	3	100;0;0	0.260	True		ENSG00000124486	ENSG00000124486	HGNC:12632													
WNT5A	gene	WNT5A	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	DRS1;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1						False	3	0;0;0	0.260	False		ENSG00000114251	ENSG00000114251	HGNC:12784													
XYLT1	gene	XYLT1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	DESBUQUOIS DYSPLASIA 2;DBQD2						False	3	0;0;0	0.260	False		ENSG00000103489	ENSG00000103489	HGNC:15516													
YAP1	gene	YAP1	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433				24462371;27267789;28801591		False	3	100;0;0	0.260	True		ENSG00000137693	ENSG00000137693	HGNC:16262													
ZC4H2	gene	ZC4H2	Expert Review;Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Wieacker-Wolff syndrome, MIM# 314580				31206972;37010288		False	3	100;0;0	0.260	True		ENSG00000126970	ENSG00000126970	HGNC:24931													
ZEB2	gene	ZEB2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mowat-Wilson syndrome, MIM# 235730;MONDO:0009341				29300384;27831545;24715670;19215041;17958891		False	3	100;0;0	0.260	True		ENSG00000169554	ENSG00000169554	HGNC:14881													
ZIC2	gene	ZIC2	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	HOLOPROSENCEPHALY 5;HPE5				19955556		False	3	0;0;0	0.260	False		ENSG00000043355	ENSG00000043355	HGNC:12873													
ZIC3	gene	ZIC3	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS;VACTERLX						False	3	0;0;0	0.260	False		ENSG00000156925	ENSG00000156925	HGNC:12874													
ZRSR2	gene	ZRSR2	Expert Review Green;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Orofaciodigital syndrome XXI, MIM# 301132				PMID: 38158857		False	3	100;0;0	0.260	True		ENSG00000169249	ENSG00000169249	HGNC:23019													
ZSWIM6	gene	ZSWIM6	Expert Review Green	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	AFND;ACROMELIC FRONTONASAL DYSOSTOSIS				25105228		False	3	0;0;0	0.260	False		ENSG00000130449	ENSG00000130449	HGNC:29316													
ALX3	gene	ALX3	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Frontonasal dysplasia 1, MIM# 136760;Frontorhiny				19409524;22106187;19401770		False	2	0;100;0	0.260	True		ENSG00000156150	ENSG00000156150	HGNC:449													
ANKRD17	gene	ANKRD17	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chopra-Amiel-Gordan syndrome, MIM# 619504;Intellectual disability;dysmorphic features				33909992		False	2	0;100;0	0.260	True		ENSG00000132466	ENSG00000132466	HGNC:23575													
ARHGEF38	gene	ARHGEF38	Expert Review Amber;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cleft lip/palate MONDO:0016044, ARHGEF38-related				36493769		False	2	0;100;0	0.260	True		ENSG00000236699	ENSG00000236699	HGNC:25968													
ARID1A	gene	ARID1A	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 2 (MIM#614607)				25168959;37010288		False	2	0;100;0	0.260	True		ENSG00000117713	ENSG00000117713	HGNC:11110													
ARID1B	gene	ARID1B	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 1, OMIM:135900				30349098;37010288		False	2	0;100;0	0.260	True		ENSG00000049618	ENSG00000049618	HGNC:18040													
ATR	gene	ATR	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	Unknown	SECKEL SYNDROME 1;SCKL1						False	2	0;0;0	0.260	False		ENSG00000175054	ENSG00000175054	HGNC:882													
AUTS2	gene	AUTS2	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 26, MIM# 615834				31788251;37010288		False	2	0;100;0	0.260	True		ENSG00000158321	ENSG00000158321	HGNC:14262													
B3GALT6	gene	B3GALT6	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	Unknown	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES;Ehlers-Danlos syndrome, progeroid type, 2 615349;SEMDJL1						False	2	0;0;0	0.260	False		ENSG00000176022	ENSG00000176022	HGNC:17978													
B4GALT7	gene	B4GALT7	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070				24755949		False	2	0;100;0	0.260	True		ENSG00000027847	ENSG00000027847	HGNC:930													
BUB1B	gene	BUB1B	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	MVA1;MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1						False	2	0;0;0	0.260	False		ENSG00000156970	ENSG00000156970	HGNC:1149													
CDC45	gene	CDC45	Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 7, 617063;MGORS7				27374770		False	2	0;0;0	0.260	False		ENSG00000093009	ENSG00000093009	HGNC:1739													
CHD4	gene	CHD4	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sifrim-Hitz-Weiss syndrome, MIM 617159				31388190;37010288		False	2	0;100;0	0.260	True		ENSG00000111642	ENSG00000111642	HGNC:1919													
COBLL1	gene	COBLL1	Expert Review Amber;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cleft lip/palate MONDO:0016044, COBLL1-related				36493769		False	2	0;100;0	0.260	True		ENSG00000082438	ENSG00000082438	HGNC:23571													
COL9A2	gene	COL9A2	Emory Genetics Laboratory;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Stickler syndrome, type V, MIM# 614284				21671392;31090205;33356723		False	2	0;100;0	0.260	True		ENSG00000049089	ENSG00000049089	HGNC:2218													
COL9A3	gene	COL9A3	Expert Review Amber;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Stickler syndrome, type VI, MIM# 620022				24273071;30450842;31090205;20301479		False	2	0;100;0	0.260	True		ENSG00000092758	ENSG00000092758	HGNC:2219													
CRELD1	gene	CRELD1	Expert Review Amber;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771				37947183		False	2	0;100;0	0.260	True		ENSG00000163703	ENSG00000163703	HGNC:14630													
DDX3X	gene	DDX3X	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	MRX102;MENTAL RETARDATION, X-LINKED 102						False	2	0;0;0	0.260	False		ENSG00000215301	ENSG00000215301	HGNC:2745													
DDX59	gene	DDX59	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	OROFACIODIGITAL SYNDROME V;OFD5						False	2	0;0;0	0.260	False		ENSG00000118197	ENSG00000118197	HGNC:25360													
EDN1	gene	EDN1	Expert list;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Auriculocondylar syndrome 3, MIM# 615706;Cleft palate				23315542;23913798		False	2	0;100;0	0.260	True		ENSG00000078401	ENSG00000078401	HGNC:3176													
ESRP2	gene	ESRP2	Expert list;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	cleft lip				29805042		False	2	0;100;0	0.260	True		ENSG00000103067	ENSG00000103067	HGNC:26152													
FBRSL1	gene	FBRSL1	Expert list;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Malformation and intellectual disability syndrome;Cleft palate				32424618		False	2	0;100;0	0.260	True		ENSG00000112787	ENSG00000112787	HGNC:29308													
FBXO11	gene	FBXO11	Expert list;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089;cleft lip				17035249;30057029;30679813		False	2	0;100;0	0.260	True		ENSG00000138081	ENSG00000138081	HGNC:13590													
FGFR3	gene	FGFR3	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Muenke syndrome, OMIM:602849;Hypochondroplasia, OMIM:146000				22565872;29150894;37010288		False	2	0;100;0	0.260	True		ENSG00000068078	ENSG00000068078	HGNC:3690													
FTO	gene	FTO	Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Growth retardation, developmental delay, facial dysmorphism, 612938;Lethal polymalformative syndrome, Boissel type				26378117;19559399		False	2	0;0;0	0.260	False		ENSG00000140718	ENSG00000140718	HGNC:24678													
GATA3	gene	GATA3	Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	HDR syndrome;Barakat syndrome;Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255				10935639;11389161;28303854;21834031;19659764		False	2	0;0;0	0.260	False		ENSG00000107485	ENSG00000107485	HGNC:4172													
IFT52	gene	IFT52	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY;SRTD16						False	2	0;0;0	0.260	False		ENSG00000101052	ENSG00000101052	HGNC:15901													
KAT5	gene	KAT5	Expert list;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103				PMID: 32822602		False	2	0;100;0	0.260	True		ENSG00000172977	ENSG00000172977	HGNC:5275													
KDM1A	gene	KDM1A	Expert Review Amber;Radboud University Medical Center, Nijmegen	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cleft palate,psychomotor retardation,distinctive facial features, 616728				23020937;24838796;26656649		False	2	0;0;0	0.260	False		ENSG00000004487	ENSG00000004487	HGNC:29079													
KMT2A	gene	KMT2A	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Wiedemann-Steiner syndrome, OMIM:605130				25929198;30305169;31710778;37010288		False	2	0;100;0	0.260	True		ENSG00000118058	ENSG00000118058	HGNC:7132													
LMNA	gene	LMNA	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	RESTRICTIVE DERMOPATHY, LETHAL						False	2	0;0;0	0.260	False		ENSG00000160789	ENSG00000160789	HGNC:6636													
LRP6	gene	LRP6	Expert list;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cleft lip;cleft palate;tooth agenesis;oligodontia				PMID: 29500247, 26963285		False	2	0;100;0	0.260	True		ENSG00000070018	ENSG00000070018	HGNC:6698													
LRRC32	gene	LRRC32	Expert list;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074				PMID: 30976112		False	2	0;100;0	0.260	True		ENSG00000137507	ENSG00000137507	HGNC:4161													
MED13L	gene	MED13L	Expert Review Amber;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation and distinctive facial features with or without cardiac defects, 616789;Cleft palate;MRFACD				25712080;25137640		False	2	0;100;0	0.260	True		ENSG00000123066	ENSG00000123066	HGNC:22962													
MED25	gene	MED25	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME;BVSYS				25792360		False	2	0;0;0	0.260	False		ENSG00000104973	ENSG00000104973	HGNC:28845													
MEOX1	gene	MEOX1	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE;KFS2				23290072;24073994		False	2	0;0;0	0.260	False		ENSG00000005102	ENSG00000005102	HGNC:7013													
MN1	gene	MN1	Expert Review Amber;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Cleft palate;CEBALID syndrome, MIM#	618774"				33351141;31834374;33351070		False	2	0;100;0	0.260	True	Other	ENSG00000169184	ENSG00000169184	HGNC:7180													
NOTCH2	gene	NOTCH2	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hajdu-Cheney syndrome, OMIM:102500				9188663;30329210;37010288		False	2	0;100;0	0.260	True		ENSG00000134250	ENSG00000134250	HGNC:7882													
PHGDH	gene	PHGDH	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	NEU-LAXOVA SYNDROME 1;NLS1				25152457;24836451		False	2	0;0;0	0.260	False		ENSG00000092621	ENSG00000092621	HGNC:8923													
PLCH1	gene	PLCH1	Expert Review Amber;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Holoprosencephaly 14, MIM# 619895				33820834		False	2	0;100;0	0.260	True		ENSG00000114805	ENSG00000114805	HGNC:29185													
PLEKHA5	gene	PLEKHA5	Expert list;Expert Review Amber;Literature	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cleft lip and palate				29805042		False	2	50;50;0	0.260	True		ENSG00000052126	ENSG00000052126	HGNC:30036													
PLEKHA7	gene	PLEKHA7	Expert list;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cleft lip and palate				29805042		False	2	0;100;0	0.260	True		ENSG00000166689	ENSG00000166689	HGNC:27049													
POGZ	gene	POGZ	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	White-Sutton syndrome, MIM# 616364				26942287;26739615		False	2	0;100;0	0.260	True		ENSG00000143442	ENSG00000143442	HGNC:18801													
RARB	gene	RARB	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	MICROPHTHALMIA, SYNDROMIC 12;MCOPS12						False	2	0;0;0	0.260	False		ENSG00000077092	ENSG00000077092	HGNC:9865													
RBPJ	gene	RBPJ	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	ADAMS-OLIVER SYNDROME				28160419;22883147		False	2	0;0;0	0.260	False		ENSG00000168214	ENSG00000168214	HGNC:5724													
RPL11	gene	RPL11	Expert list;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 7, MIM# 612562;Cleft palate						False	2	0;100;0	0.260	True		ENSG00000142676	ENSG00000142676	HGNC:10301													
RPS28	gene	RPS28	Expert Review Amber;Victorian Clinical Genetics Services	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164;Cleft palate				24942156		False	2	0;100;0	0.260	True		ENSG00000233927	ENSG00000233927	HGNC:10418													
SCUBE3	gene	SCUBE3	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184				33308444		False	2	0;100;0	0.260	True		ENSG00000146197	ENSG00000146197	HGNC:13655													
SEC23A	gene	SEC23A	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	CLSD;CRANIOLENTICULOSUTURAL DYSPLASIA						False	2	0;0;0	0.260	False		ENSG00000100934	ENSG00000100934	HGNC:10701													
SEPT9	gene	SEPT9	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	HNA;Amyotrophy, hereditary neuralgic, MIM# 162100				16186812;19451530;19939853;19139049;18492087		False	2	0;100;0	0.260	True		ENSG00000184640	ENSG00000184640	HGNC:7323													
SHROOM3	gene	SHROOM3	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Anencephaly;cleft lip and palate				32621286		False	2	0;100;0	0.260	True		ENSG00000138771	ENSG00000138771	HGNC:30422													
SMARCB1	gene	SMARCB1	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 3, OMIM:614608				25168959;37010288		False	2	0;100;0	0.260	True		ENSG00000099956	ENSG00000099956	HGNC:11103													
SMG9	gene	SMG9	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	HBMS;HEART AND BRAIN MALFORMATION SYNDROME				27018474		False	2	0;0;0	0.260	False		ENSG00000105771	ENSG00000105771	HGNC:25763													
TBX15	gene	TBX15	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	COUSIN SYNDROME						False	2	0;0;0	0.260	False		ENSG00000092607	ENSG00000092607	HGNC:11594													
TTC21B	gene	TTC21B	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY;SRTD4						False	2	0;0;0	0.260	False		ENSG00000123607	ENSG00000123607	HGNC:25660													
UBE3B	gene	UBE3B	Expert Review;Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Kaufman oculocerebrofacial syndrome, OMIM:244450				23200864;23687348;37010288		False	2	0;100;0	0.260	True		ENSG00000151148	ENSG00000151148	HGNC:13478													
WDR19	gene	WDR19	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SRTD5;SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY						False	2	0;0;0	0.260	False		ENSG00000157796	ENSG00000157796	HGNC:18340													
WDR34	gene	WDR34	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SRTD11;SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY						False	2	0;0;0	0.260	False		ENSG00000119333	ENSG00000119333	HGNC:28296													
WDR35	gene	WDR35	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY;SRTD7						False	2	0;0;0	0.260	False		ENSG00000118965	ENSG00000118965	HGNC:29250													
WDR60	gene	WDR60	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	SRTD8;SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY						False	2	0;0;0	0.260	False		ENSG00000126870	ENSG00000126870	HGNC:21862													
ZMPSTE24	gene	ZMPSTE24	Expert Review Amber	Clefting disorders	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	RESTRICTIVE DERMOPATHY, LETHAL						False	2	0;0;0	0.260	False		ENSG00000084073	ENSG00000084073	HGNC:12877