Clefting disorders (Version 1.317)

Description

This panel contains genes associated with syndromic and non-syndromic cleft lip, cleft palate and orofacial clefts.

With thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.

Panel Activity

23 reviewers

Tiong Tan (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Sarah Donoghue (Royal Children's Hospital)
Paul De Fazio (Victorian Clinical Genetics Services)
Abhijit Kulkarni (Healius Pathology)
Ain Roesley (Victorian Clinical Genetics Services)
Achchuthan Shanmugasundram (Genomics England)
chirag patel (Genetic Health Queensland)
Michelle Torres (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Chris Ciotta (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Krithika Murali (Pathology Queensland)
Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)
Sarah Milton (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Rylee Peters (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Richard Lin (Victorian Clinical Genetics Services)

340 Entities

276 reviewed, 184 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 340 Entitiess
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Disease associations Baraitser-Winter syndrome 1, MIM# 243310 Tags
Green Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Disease associations Baraitser-Winter syndrome 2, MIM# 614583 Tags
Green Green List (high evidence)	ALX1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Frontonasal dysplasia 3, MIM#613456 severe facial clefting Tags
Green Green List (high evidence)	AMER1	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 Victorian Clinical Genetics Services Disease associations Osteopathia striata with cranial sclerosis, MIM# 300373 Tags
Green Green List (high evidence)	AMOTL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Craniofaciocardiohepatic syndrome, MIM# 621192 Tags
Green Green List (high evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Disease associations KBG syndrome, MIM# 148050 Tags
Green Green List (high evidence)	ARCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Disease associations 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 Disease associations Clefting disorder, MONDO:0000358, ARHGAP29-related Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Disease associations Bohring-Opitz syndrome, MIM# 605039 Tags
Green Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Peters-plus syndrome, MIM# 261540 Tags
Green Green List (high evidence)	BCOR	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 Disease associations Microphthalmia, syndromic 2, MIM# 300166 Tags
Green Green List (high evidence)	BMP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 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 Disease associations Orofacial cleft 11 600625 Microphthalmia, syndromic 6, MIM# 607932 Tags
Green Green List (high evidence)	BPNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Chondrodysplasia with joint dislocations, GPAPP type, MIM# 614078 Tags
Green Green List (high evidence)	C2CD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Orofaciodigital syndrome XIV, MIM# 615948 Tags
Green Green List (high evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Meckel syndrome 6, MIM# 612284 Tags
Green Green List (high evidence)	CDH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Blepharocheilodontic syndrome 1, MIM# 119580 Tags
Green Green List (high evidence)	CDK20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lemire-Marshall-Drivas-Chitayat syndrome, MIM# 621676 Tags
Green Green List (high evidence)	CDKN1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Disease associations Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016476 Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Disease associations CHARGE syndrome, MIM# 214800 Tags
Green Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Disease associations Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290 Tags
Green Green List (high evidence)	CILK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Endocrine-cerebroosteodysplasia, MIM# 612651 Tags
Green Green List (high evidence)	CNTNAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Hypomyelinating neuropathy, congenital, 3, OMIM:618186 Tags
Green Green List (high evidence)	COL11A1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green UKGTN Victorian Clinical Genetics Services Disease associations Fibrochondrogenesis 1 (MIM#228520) Marshall syndrome (MIM#154780) Stickler syndrome, type II (MIM#604841) Tags
Green Green List (high evidence)	COL11A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840 Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150 Tags
Green Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert Review Green UKGTN Victorian Clinical Genetics Services Disease associations Type 2 collagenopathy MONDO:0022800 Tags
Green Green List (high evidence)	COL9A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Stickler syndrome, type IV, MIM# 614134 Tags
Green Green List (high evidence)	COLEC10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 3MC syndrome 3, MONDO:0009554 3MC syndrome 3, OMIM:248340 Tags
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 3MC syndrome 2, MIM# 265050 Tags
Green Green List (high evidence)	CPLANE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Orofaciodigital syndrome VI, MIM# 277170 Tags
Green Green List (high evidence)	CPLANE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ciliopathy, MONDO:0005308, CPLANE2-related Tags
Green Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations 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 Disease associations 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 Disease associations Blepharocheilodontic syndrome 2, MIM# 617681 Tags
Green Green List (high evidence)	DDX59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations orofaciodigital syndrome V, MONDO:0008267 Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Smith-Lemli-Opitz syndrome, MIM# 270400 Tags
Green Green List (high evidence)	DHODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Miller syndrome, MIM# 263750 Tags
Green Green List (high evidence)	DISP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Holoprosencephaly 10, MIM# 621143 Tags
Green Green List (high evidence)	DVL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Disease associations Robinow syndrome, autosomal dominant 2 (MIM#616331) Tags
Green Green List (high evidence)	DVL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Robinow syndrome, autosomal dominant 3, MIM#616894 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 Tags
Green Green List (high evidence)	DYNC2LI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088) Tags
Green Green List (high evidence)	EDNRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mandibulofacial dysostosis with alopecia, MIM# 616367 Tags
Green Green List (high evidence)	EFNB1	2 reviews 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Craniofrontonasal dysplasia, MIM# 304110 Tags
Green Green List (high evidence)	EFTUD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Disease associations Mandibulofacial dysostosis, Guion-Almeida type MIM#610536 Tags
Green Green List (high evidence)	EIF2S3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Disease associations MEHMO syndrome, MIM# 300148 Tags
Green Green List (high evidence)	EIF3F	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations 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 Disease associations Richieri-Costa-Pereira syndrome Robin sequence with cleft mandible and limb anomalies, 268305 Cleft palate Tags STR
Green Green List (high evidence)	EIF4A3_RCPS_complex STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Robin sequence with cleft mandible and limb anomalies MIM#268305 Richieri-Costa-Pereira syndrome Tags
Green Green List (high evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Disease associations Vici syndrome, MIM# 242840 Tags
Green Green List (high evidence)	ERF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disease, MONDO:0002254, ERF-related Tags
Green Green List (high evidence)	ESCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Juberg-Hayward syndrome, MIM# 216100 Roberts-SC phocomelia syndrome, MIM#268300 Tags
Green Green List (high evidence)	ESRP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Orofacial cleft MONDO:0000358, ESRP2-related Tags
Green Green List (high evidence)	EYA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Branchiootorenal syndrome 1, with or without cataracts, MIM# 113650 Tags
Green Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen Disease associations Raine syndrome, MIM# 259775 Tags
Green Green List (high evidence)	FBXO11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MONDO:0060760 Tags
Green Green List (high evidence)	FGD1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aarskog-Scott syndrome, X-linked, MONDO:0010589 Tags
Green Green List (high evidence)	FGFR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Disease associations Hypogonadotropic hypogonadism 2 with or without anosmia, MIM# 147950 Tags
Green Green List (high evidence)	FGFR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Disease associations Apert syndrome, MIM# 101200 Saethre-Chotzen syndrome, MIM# 101400 Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green UKGTN Disease associations Melnick-Needles syndrome, MIM# 309350 Otopalatodigital syndrome, type I, MIM#311300 Otopalatodigital syndrome, type II, MIM# 304120 Tags
Green Green List (high evidence)	FLNB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Disease associations Atelosteogenesis, type I, MIM# 108720 Atelosteogenesis, type III, MIM# 108721 Larsen syndrome, MIM# 150250 Tags
Green Green List (high evidence)	FOXC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Lymphedema-distichiasis syndrome, MIM# 153400 Tags
Green Green List (high evidence)	FOXE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bamforth-Lazarus syndrome, OMIM #241850 Tags
Green Green List (high evidence)	FRAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Disease associations Fraser syndrome 1, MIM# 219000 Tags
Green Green List (high evidence)	GDF11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122 Tags
Green Green List (high evidence)	GJA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Disease associations Oculodentodigital dysplasia, MIM# 164200 Tags
Green Green List (high evidence)	GLI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Culler-Jones syndrome, OMIM:615849 Holoprosencephaly 9, OMIM:610829 Tags
Green Green List (high evidence)	GLI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Disease associations Pallister-Hall syndrome, MONDO:0007804 Tags
Green Green List (high evidence)	GNAI3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Auriculocondylar syndrome 1, OMIM #602483 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 Disease associations Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 Tags
Green Green List (high evidence)	GPC3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Disease associations Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602 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 Disease associations Van der Woude syndrome 2 MIM#606713 Tags
Green Green List (high evidence)	HDAC8	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Disease associations Cornelia de Lange syndrome 5, MIM#300882 Tags
Green Green List (high evidence)	HNRNPK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations 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 Disease associations Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063 Tags
Green Green List (high evidence)	HYLS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Hydrolethalus syndrome MONDO:0006037 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 Disease associations Silver-Russell syndrome 3 MIM#616489 Tags
Green Green List (high evidence)	INTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Oral-facial-digital syndrome, MONDO:0015375, INTS13-related Tags
Green Green List (high evidence)	IRF6	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations van der Woude syndrome 1, MIM:119300 Popliteal pterygium syndrome 1, MIM:119500 Tags
Green Green List (high evidence)	Cat eye syndrome, 22q11.21 tetrasomy syndrome ISCA-37393-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV
Green Green List (high evidence)	8p23.1 duplication syndrome ISCA-37423-Gain Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations 8p23.1 duplication syndrome intellectual disability congenital heart disease Tags SV/CNV
Green Green List (high evidence)	DiGeorge syndrome ISCA-37433-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations DiGeorge syndrome MIM#188400 Tags
Green Green List (high evidence)	Chromosome 22q11.2 deletion syndrome, DiGeorge syndrome ISCA-37446-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Disease associations Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green Green List (high evidence)	SOX9 upstream enhancer loss ISCA-46303-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Disease associations Pierre Robin syndrome MIM#261800 Tags regulatory region
Green Green List (high evidence)	JPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations congenital myopathy 25, MONDO:0975808 Tags
Green Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Genitopatellar syndrome, OMIM:606170 SBBYSS syndrome, OMIM:603736 Tags
Green Green List (high evidence)	KCNJ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Andersen syndrome, MIM# 170390 Tags
Green Green List (high evidence)	KCNK9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Birk-Barel syndrome, MIM#612292 Tags
Green Green List (high evidence)	KDM1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Disease associations Cleft palate,psychomotor retardation,distinctive facial features, 616728 Tags
Green Green List (high evidence)	KDM6A	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 Emory Genetics Laboratory Expert Review Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Disease associations Kabuki syndrome 2, MONDO:0010465 Tags
Green Green List (high evidence)	KIAA0586	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546 Tags
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Acrocallosal syndrome, MIM# 200990 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations Kabuki syndrome 1, MIM# 147920 Tags
Green Green List (high evidence)	LOXL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Stickler syndrome, MONDO:0019354, LOXL3-related Tags
Green Green List (high evidence)	MAP3K7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations cardiospondylocarpofacial syndrome, MONDO:0008005 frontometaphyseal dysplasia 2, MONDO:0014935 Tags
Green Green List (high evidence)	MAPRE2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Symmetric circumferential skin creases, congenital, 2, MIM# 616734 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations 3MC syndrome 1, MIM# 257920 MONDO:0009770 Tags
Green Green List (high evidence)	MBTPS2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Disease associations IFAP syndrome with or without BRESHECK syndrome MONDO:0100213 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 Disease associations Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520 OKS submucous cleft palate Hardikar syndrome, MIM# 301068 Tags
Green Green List (high evidence)	MED13L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Impaired intellectual development and distinctive facial features with or without cardiac defects, MIM# 616789 Tags
Green Green List (high evidence)	MED16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Guillouet-Gordon syndrome MIM#621220 Tags
Green Green List (high evidence)	MEIS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Disease associations Cleft palate, cardiac defects, and impaired intellectual development, MIM#600987 Tags
Green Green List (high evidence)	MID1	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 Disease associations Opitz GBBB syndrome, type I, MIM# 300000 Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Meckel syndrome 1, MIM# 249000 Tags
Green Green List (high evidence)	MN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Cleft palate CEBALID syndrome, MIM# 618774 Tags
Green Green List (high evidence)	MSX1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Tooth agenesis, selective, 1, with or without orofacial cleft, MIM#106600 Orofacial cleft 5, MIM#608874 Tags
Green Green List (high evidence)	MYMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations 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 Disease associations Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060 Zlotogora-Ogur syndrome Tags
Green Green List (high evidence)	NEDD4L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Periventricular nodular heterotopia 7 MIM#617201 Tags
Green Green List (high evidence)	NEK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Orofaciodigital syndrome II , MIM# 252100 Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Cornelia de Lange syndrome 1, MONDO:0007387 Tags
Green Green List (high evidence)	OFD1	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 Disease associations orofaciodigital syndrome I, MONDO:0010702 Tags
Green Green List (high evidence)	PAX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Disease associations Waardenburg syndrome type 1, MONDO:0008670 Tags
Green Green List (high evidence)	PGAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations 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 Disease associations 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 Disease associations Mental retardation syndrome, X-linked, Siderius type, 300263 Tags
Green Green List (high evidence)	PIEZO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Gordon syndrome, MONDO:0007252 Marden-Walker syndrome, MIM# 248700 Arthrogryposis, distal, type 3, MIM# 114300 Tags
Green Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080 Tags
Green Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations hyperphosphatasia with intellectual disability syndrome 1, MONDO:0009398 Tags
Green Green List (high evidence)	PLCB4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations 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 Disease associations Acrofacial dysostosis, Cincinnati type MIM#616462 Tags
Green Green List (high evidence)	POLR1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Treacher-Collins syndrome 4, MIM# 618939 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Treacher Collins syndrome 3, MIM# 248390 Tags
Green Green List (high evidence)	PORCN	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Focal dermal hypoplasia, MIM# 305600 Tags
Green Green List (high evidence)	PPP1R13L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 Tags
Green Green List (high evidence)	PRKCI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Van der Woude syndrome MONDO:0019508, PRKCI-related Tags
Green Green List (high evidence)	PTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Basal cell nevus syndrome 1, MIM#109400 Holoprosencephaly 7, MIM#610828 Tags
Green Green List (high evidence)	RAB34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Orofaciodigital syndrome 20, MIM#620718 Tags
Green Green List (high evidence)	RBM10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 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 Disease associations 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 Disease associations Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650 Tags
Green Green List (high evidence)	ROR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Robinow syndrome, autosomal recessive 1, MIM# 268310 Tags
Green Green List (high evidence)	RPL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 6, MONDO:0012937 Tags
Green Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 10, MIM# 613309 Tags
Green Green List (high evidence)	RPS28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 Cleft palate Tags
Green Green List (high evidence)	RSPO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Tetraamelia syndrome 2, MIM# 618021 Cleft lip and palate 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 Disease associations Glass syndrome, MIM# 612313 MONDO:0100147 Tags
Green Green List (high evidence)	SCNM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations orofaciodigital syndrome 19, MONDO:0859310 Tags
Green Green List (high evidence)	SF3B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Craniofacial microsomia, MIM#164210 Tags
Green Green List (high evidence)	SF3B4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Nager acrofacial dysostosis, MONDO:0007943 Tags
Green Green List (high evidence)	SHH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Holoprosencephaly 3, MIM# 142945 Tags
Green Green List (high evidence)	SIX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Holoprosencephaly 2, MIM# 157170 Tags
Green Green List (high evidence)	SLC26A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Disease associations Achondrogenesis 1B, MIM#600972 Atelosteogenesis, type II, MIM#256050 Diastrophic dysplasia, MIM#222600 Epiphyseal dysplasia, multiple, 4, MIM#226900 Tags
Green Green List (high evidence)	SMAD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations aneurysm-osteoarthritis syndrome, MONDO:0013426 Tags
Green Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Myhre syndrome, MIM# 139210 Tags
Green Green List (high evidence)	SMARCA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Coffin-Siris syndrome 4, MIM# 614609 Tags
Green Green List (high evidence)	SMC1A	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 Disease associations Developmental and epileptic encephalopathy 85, with or without midline brain defects, MIM# 301044 Cornelia de Lange syndrome 2, MONDO:0010370 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 Disease associations 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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations cerebrocostomandibular syndrome, MONDO:0007301 Tags
Green Green List (high evidence)	SON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations ZTTK syndrome, MONDO:0014936 Tags
Green Green List (high evidence)	SOX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Disease associations campomelic dysplasia, MONDO:0007251 Tags
Green Green List (high evidence)	SPECC1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Disease associations Opitz G/BBB syndrome, MONDO:0007779 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 Disease associations Mullegama-Klein-Martinez syndrome, MIM#301022 Tags
Green Green List (high evidence)	TBC1D32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations orofaciodigital syndrome IX, MONDO:0009795 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 Disease associations Velocardiofacial syndrome, MIM# 192430 Cleft palate Tags SV/CNV
Green Green List (high evidence)	TBX15	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Pelviscapular dysplasia (Cousin syndrome), MONDO:0009845 Cleft palate, MONDO:0016064, TBX15-related Tags
Green Green List (high evidence)	TBX22	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 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Abruzzo-Erickson syndrome, MONDO:0010554 cleft palate with or without ankyloglossia, X-linked, MONDO:0010560 Tags
Green Green List (high evidence)	TCOF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Treacher Collins syndrome 1, MONDO:0007944 Tags
Green Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations orofaciodigital syndrome IV, MONDO:0009794 Tags
Green Green List (high evidence)	TELO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848 Tags
Green Green List (high evidence)	TFAP2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations branchiooculofacial syndrome, MONDO:0007235 Tags
Green Green List (high evidence)	TGDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Catel-Manzke syndrome, MONDO:0014507 Tags
Green Green List (high evidence)	TGFB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Loeys-Dietz syndrome 5, MIM#615582 Tags
Green Green List (high evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Loeys-Dietz syndrome 1, MONDO:0012212 Tags
Green Green List (high evidence)	TGFBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Loeys-Dietz syndrome 2, MONDO:0012427 Tags
Green Green List (high evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM# 213980 Tags
Green Green List (high evidence)	TP63	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 UKGTN Victorian Clinical Genetics Services Disease associations TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 Tags
Green Green List (high evidence)	TRAPPC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Intellectual developmental disorder, autosomal recessive 13, MIM# 613192 Tags
Green Green List (high evidence)	TRRAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Developmental delay with or without dysmorphic facies and autism, MIM# 618454 Tags
Green Green List (high evidence)	TUBB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Symmetric circumferential skin creases, congenital, 1, MIM#156610 Tags
Green Green List (high evidence)	TXNL4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags 5'UTR SV/CNV
Green Green List (high evidence)	UBE3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Kaufman oculocerebrofacial syndrome, OMIM:244450 Tags
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 Disease associations Intellectual developmental disorder 99 MIM#300919 syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Tags
Green Green List (high evidence)	WNT5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Robinow syndrome, autosomal dominant 1, MIM# 180700 Tags
Green Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Desbuquois dysplasia 2, MIM# 615777 Tags
Green Green List (high evidence)	YAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations 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 Disease associations 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 Disease associations Mowat-Wilson syndrome, MIM# 235730 MONDO:0009341 Tags
Green Green List (high evidence)	ZFHX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related Tags
Green Green List (high evidence)	ZFHX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder, ZFHX4-related (MONDO:0700092) Tags
Green Green List (high evidence)	ZIC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Holoprosencephaly 5, MIM# 609637 Tags
Green Green List (high evidence)	ZIC2_HPE5_GCN STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Holoprosencephaly 5 MIM#609637 Tags paediatric-onset
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 Disease associations Orofaciodigital syndrome XXI, MIM# 301132 Tags
Green Green List (high evidence)	ZSWIM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Acromelic frontonasal dysostosis, MIM#603671 Tags
Amber Amber List (moderate evidence)	ALX3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations 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 Disease associations 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 Disease associations 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 Disease associations 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 Disease associations Coffin-Siris syndrome 1, OMIM:135900 Tags
Amber Amber List (moderate evidence)	AUTS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Tags
Amber Amber List (moderate evidence)	AXIN2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Oligodontia-colorectal cancer syndrome (MIM#608615) Tags
Amber Amber List (moderate evidence)	B3GALT6	0 reviews	Unknown	Sources Expert Review Amber Disease associations 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 Disease associations 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 Disease associations MVA1 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 Tags
Amber Amber List (moderate evidence)	CCN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Kyphomelic dysplasia, OMIM:211350 kyphomelic dysplasia, MONDO:0008881 spondyloepimetaphyseal dysplasia, MONDO:0100510 Tags
Amber Amber List (moderate evidence)	CDC45	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Disease associations Meier-Gorlin syndrome 7, 617063 MGORS7 Tags
Amber Amber List (moderate evidence)	CECR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CECR2-related Tags
Amber Amber List (moderate evidence)	CHD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations 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 Disease associations 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 Disease associations 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 Disease associations Stickler syndrome, type VI, MIM# 620022 Tags
Amber Amber List (moderate evidence)	CRELD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Tags
Amber Amber List (moderate evidence)	DDX3X	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 Amber Disease associations MRX102 MENTAL RETARDATION, X-LINKED 102 Tags
Amber Amber List (moderate evidence)	DYNC2I1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations SRTD8 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY Tags
Amber Amber List (moderate evidence)	DYNC2I2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations SRTD11 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY Tags
Amber Amber List (moderate evidence)	EDN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Auriculocondylar syndrome 3, MIM# 615706 Cleft palate Tags
Amber Amber List (moderate evidence)	ERBB2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Congenital heart disease - left ventricular outflow tract obstruction defects MONDO:0005453 Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623) Tags
Amber Amber List (moderate evidence)	FBRSL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Camptodactyly, impaired intellectual development, and facial dysmorphism syndrome, MIM# 621722 Tags
Amber Amber List (moderate evidence)	FGFR3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations 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 Disease associations 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 Disease associations HDR syndrome Barakat syndrome Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 Tags
Amber Amber List (moderate evidence)	GRHL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Orofacial cleft, MONDO:0000358, GRHL2-related Tags
Amber Amber List (moderate evidence)	IFT52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY SRTD16 Tags
Amber Amber List (moderate evidence)	JARID2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Developmental delay with variable intellectual disability and dysmorphic facies, MIM#620098 Tags
Amber Amber List (moderate evidence)	KAT5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103 Tags
Amber Amber List (moderate evidence)	KMT2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations Wiedemann-Steiner syndrome, OMIM:605130 Tags
Amber Amber List (moderate evidence)	LMNA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations RESTRICTIVE DERMOPATHY, LETHAL Tags
Amber Amber List (moderate evidence)	LRP6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations cleft lip cleft palate tooth agenesis oligodontia Tags
Amber Amber List (moderate evidence)	LRRC32	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Tags
Amber Amber List (moderate evidence)	MED25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME BVSYS Tags
Amber Amber List (moderate evidence)	MEOX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE KFS2 Tags
Amber Amber List (moderate evidence)	NOTCH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations Hajdu-Cheney syndrome, OMIM:102500 Tags
Amber Amber List (moderate evidence)	NUP188	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Sandestig-Stefanova syndrome, MIM#618804 Tags
Amber Amber List (moderate evidence)	PHGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations NEU-LAXOVA SYNDROME 1 NLS1 Tags
Amber Amber List (moderate evidence)	PLCH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations 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 Disease associations 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 Disease associations 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 Disease associations White-Sutton syndrome, MIM# 616364 Tags
Amber Amber List (moderate evidence)	RARB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations MICROPHTHALMIA, SYNDROMIC 12 MCOPS12 Tags
Amber Amber List (moderate evidence)	RAX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Microphthalmia, syndromic 16, MIM#611038 Tags
Amber Amber List (moderate evidence)	RBPJ	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Disease associations ADAMS-OLIVER SYNDROME Tags
Amber Amber List (moderate evidence)	RPL11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Diamond-Blackfan anemia 7, MIM# 612562 Cleft palate Tags
Amber Amber List (moderate evidence)	SCARF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations Van den Ende-Gupta syndrome, MIM#600920 Tags
Amber Amber List (moderate evidence)	SCUBE3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations 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 Disease associations CLSD CRANIOLENTICULOSUTURAL DYSPLASIA Tags
Amber Amber List (moderate evidence)	SEPTIN9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Disease associations 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 Disease associations 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 Disease associations Coffin-Siris syndrome 3, OMIM:614608 Tags
Amber Amber List (moderate evidence)	SMC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Disease associations Cornelia de Lange syndrome 3, MIM# 610759 Tags
Amber Amber List (moderate evidence)	SMG9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations HBMS HEART AND BRAIN MALFORMATION SYNDROME Tags
Amber Amber List (moderate evidence)	TTC21B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY SRTD4 Tags
Amber Amber List (moderate evidence)	WDR19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations SRTD5 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY Tags
Amber Amber List (moderate evidence)	WDR35	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY SRTD7 Tags
Amber Amber List (moderate evidence)	ZMPSTE24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations 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 Disease associations 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 Disease associations Cleft lip/palate, MONDO:0016044, AFDN-related Tags
Red Red List (low evidence)	ALG9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations GILLESSEN-KAESBACH-NISHIMURA SYNDROME GIKANIS Tags
Red Red List (low evidence)	ARHGAP31	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Disease associations Adams-Oliver syndrome 1, MIM#100300 Tags
Red Red List (low evidence)	ATR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Seckel syndrome 1, MIM# 210600 Tags
Red Red List (low evidence)	ATRX	0 reviews	Unknown	Sources Expert Review Red Disease associations MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 MRXHF1 Tags
Red Red List (low evidence)	B3GAT3	0 reviews	Unknown	Sources Expert Review Red Disease associations JDSCD MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS Tags
Red Red List (low evidence)	BOC	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Orofacial clefting, MONDO:0000358, BOC-related Tags
Red Red List (low evidence)	CANT1	0 reviews	Unknown	Sources Expert Review Red Disease associations DBQD1 DESBUQUOIS DYSPLASIA 1 Tags
Red Red List (low evidence)	CASK	0 reviews	Unknown	Sources Expert Review Red Disease associations MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA MICPCH Tags
Red Red List (low evidence)	CDH3	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Orofacial cleft, MONDO:0000358, CHD3-related Tags
Red Red List (low evidence)	CHD1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cleft palate Tags
Red Red List (low evidence)	CHST14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 Tags
Red Red List (low evidence)	CHSY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations 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 Disease associations Filippi syndrome, 272440 Tags
Red Red List (low evidence)	DIS3L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Disease associations Perlman syndrome, 267000 Tags
Red Red List (low evidence)	DLG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations cleft lip/palate MONDO:0016044 Tags
Red Red List (low evidence)	DLL4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Disease associations Adams-Oliver syndrome 6, MIM# 616589 Tags
Red Red List (low evidence)	DLX4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Disease associations Orofacial cleft 15, MIM# 616788 Tags
Red Red List (low evidence)	DNMT3B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000 Tags
Red Red List (low evidence)	DOCK6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Adams-Oliver syndrome 2 MIM#614219 Tags
Red Red List (low evidence)	EBP	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Disease associations Chondrodysplasia punctata, X-linked dominant, MIM# 302960 MEND syndrome, MIM# 300960 Tags
Red Red List (low evidence)	EOGT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Adams-Oliver syndrome 4, MIM# 615297 Tags
Red Red List (low evidence)	FAM111A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Radboud University Medical Center, Nijmegen Disease associations 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 Disease associations 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 Disease associations 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 Disease associations 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 Disease associations orofacial clefting Tags
Red Red List (low evidence)	GAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Disease associations developmental and epileptic encephalopathy 89, MIM#619124 Tags
Red Red List (low evidence)	GATA6	0 reviews	Unknown	Sources Expert Review Red Disease associations CTHM CONOTRUNCAL HEART MALFORMATIONS Tags
Red Red List (low evidence)	GDF1	0 reviews	Unknown	Sources Expert Review Red Disease associations 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 Disease associations Meier-Gorlin syndrome 6, 616835 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 Disease associations 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 Disease associations 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)	IFT140	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 Tags
Red Red List (low evidence)	IFT172	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Tags
Red Red List (low evidence)	IFT80	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263 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 Disease associations 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 Disease associations KDVS Koolen-De Vries syndrome, 610443 Tags
Red Red List (low evidence)	KAT6A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Disease associations Arboleda-Tham syndrome MIM#616268 Tags
Red Red List (low evidence)	KIF22	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Disease associations SEMDJL2 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 Tags
Red Red List (low evidence)	KIFBP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Tags
Red Red List (low evidence)	LMX1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Disease associations Nail-patella syndrome, 161200 Tags
Red Red List (low evidence)	METTL23	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations 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 Disease associations 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 Disease associations Nijmegen breakage syndrome, 251260 NBS Tags
Red Red List (low evidence)	NKX2-5	0 reviews	Unknown	Sources Expert Review Red Disease associations CTHM CONOTRUNCAL HEART MALFORMATIONS Tags
Red Red List (low evidence)	NKX2-6	0 reviews	Unknown	Sources Expert Review Red Disease associations CTHM CONOTRUNCAL HEART MALFORMATIONS Tags
Red Red List (low evidence)	NOTCH1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Disease associations Orofacial cleft, MONDO:0000358, NOTCH1-related Tags
Red Red List (low evidence)	NSDHL	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Disease associations CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS Tags
Red Red List (low evidence)	PDGFC	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Orofacial cleft, MONDO:0000358, PDGFC-related Tags
Red Red List (low evidence)	PGAP2	0 reviews	Unknown	Sources Expert Review Red Disease associations HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 HPMRS3 Tags
Red Red List (low evidence)	PIGA	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Tags
Red Red List (low evidence)	PIGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations 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 Disease associations MPPH1 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 Tags
Red Red List (low evidence)	POLR1D	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Disease associations Treacher Collins syndrome 2, MONDO:0013385 Tags
Red Red List (low evidence)	POMT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations 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 Disease associations 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 Disease associations Renpenning syndrome, 309500 Tags
Red Red List (low evidence)	PSAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Neu-Laxova syndrome 2, 616038 Tags
Red Red List (low evidence)	PTDSS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Disease associations 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 Disease associations SMS SMITH-MAGENIS SYNDROME Tags
Red Red List (low evidence)	RBM8A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations 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 Disease associations 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 Disease associations 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 Disease associations RYR1-related myopathy - MONDO:0100150 Tags
Red Red List (low evidence)	SALL4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Disease associations Duane-radial ray syndrome, MIM# 607323 Tags
Red Red List (low evidence)	SEC24D	1 review 1 red	Unknown	Sources Expert Review Red Literature Disease associations 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 Disease associations Spastic paraplegia 81, autosomal recessive, MIM# 618768 Tags
Red Red List (low evidence)	SIX1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Disease associations Branchiootic syndrome 3, MIM# 608389 Tags
Red Red List (low evidence)	SIX5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Disease associations Branchiootorenal syndrome 2, MIM# 610896 Tags disputed
Red Red List (low evidence)	SKI	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Disease associations Shprintzen-Goldberg syndrome, MIM# 182212 Tags
Red Red List (low evidence)	SMAD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Loeys-Dietz syndrome Tags
Red Red List (low evidence)	SMOC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations 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 Disease associations MICROPHTHALMIA, SYNDROMIC 3 MCOPS3 Tags
Red Red List (low evidence)	STAMBP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Microcephaly-capillary malformation syndrome, MIM# 614261 Tags
Red Red List (low evidence)	STIL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE MCPH7 Tags
Red Red List (low evidence)	STRA6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations MCOPS9 MICROPHTHALMIA, SYNDROMIC 9 Tags
Red Red List (low evidence)	STXBP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Disease associations 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 Disease associations 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 Disease associations 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 Disease associations 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 Disease associations 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 Disease associations Loeys-Dietz syndrome 4, 614816 Tags
Red Red List (low evidence)	THOC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Disease associations Beaulieu-Boycott-Innes syndrome, MIM:613680 Tags
Red Red List (low evidence)	TOGARAM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Disease associations Cleft of the lip and palate Microphthalmia Cerebral dysgenesis Hydrocephalus Tags
Red Red List (low evidence)	TRIM37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Mulibrey nanism, MIM# 253250 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 Disease associations 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 Disease associations BARBER-SAY SYNDROME BBRSAY Tags
Red Red List (low evidence)	UQCC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations 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 Disease associations MCOPS11 MICROPHTHALMIA, SYNDROMIC 11 Tags
Red Red List (low evidence)	WASHC5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations RTSC1 RITSCHER-SCHINZEL SYNDROME 1 Tags
Red Red List (low evidence)	WNT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE TETAMS Tags
Red Red List (low evidence)	ZBTB24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Disease associations Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069 Tags
Red Red List (low evidence)	ZIC3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Disease associations Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955) Heterotaxy, visceral, 1, X-linked (MIM#306955) VACTERL association, X-linked, MIM# 314390 Tags
Red Red List (low evidence)	ZNF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hydrocephalus cleft palate microphthalmia Tags

Clefting disorders (Version 1.317)

23 reviewers

340 Entities

276 reviewed, 184 green

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

2 reviews

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

2 reviews

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags