The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Clefting (Version 4.108)

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Familial non-syndromic cleft lip and or familial cleft palate, Familial non-syndromic clefting, Syndromic cleft lip and or cleft palate, Syndromic clefting
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Latest signed off version: v4.0 (22 Mar 2023)
Previously signed off versions: v3.0, v2.2
Previous code: 57acb8268f620364dc61afd3

Description

This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

A combined panel for cleft lip and or cleft palate disorders. This includes the disorders: 
- Familial non-syndromic cleft lip and or familial cleft palate
- Syndromic cleft lip and or cleft palate

Panel Activity

20 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Philip Stanier (UCL-ICH)

Group: GeCIP domain
Workplace: Research lab
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Group: Other
Workplace: Other
Olivia Niblock (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Usha Kini (Oxford Centre for Genomic Medicine)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Aleš Maver (Clinical Institute of Medical Genetics)

Group: Other
Workplace: Other diagnostic lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Irina Ziravecka (BKUS)

Group: Other
Workplace: Other

312 Entities

302 reviewed, 156 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 312 Entitiess
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME 1 BRWS1 Tags
Green Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME 2 BRWS2 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 Phenotypes OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS OSCS Cleft palate Tags
Green Green List (high evidence)	ANKRD11	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism) Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome Orofacial Clefting with skeletal features Tags
Green Green List (high evidence)	ARHGAP29	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Victorian Clinical Genetics Services Phenotypes cleft lip with or without cleft palate Cleft palate Tags gene-checked
Green Green List (high evidence)	ARHGAP31	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME 1 AOS1 Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BOHRING-OPITZ SYNDROME BOPS Tags
Green Green List (high evidence)	B3GLCT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PETERS-PLUS SYNDROME 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 Phenotypes MICROPHTHALMIA, SYNDROMIC 2 MCOPS2 Tags
Green Green List (high evidence)	BMP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cleft palate Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 Tags
Green Green List (high evidence)	C2CD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OROFACIODIGITAL SYNDROME XIV OFD14 Tags
Green Green List (high evidence)	C5orf42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OROFACIODIGITAL SYNDROME VI OFD6 Tags new-gene-name
Green Green List (high evidence)	CC2D2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Meckel syndrome 6, 612284 MKS6 Meckel-Gruber syndrome Tags
Green Green List (high evidence)	CDH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes BLEPHAROCHEILODONTIC Blepharocheilodontic syndrome 1 Tags
Green Green List (high evidence)	CDKN1C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Phenotypes BECKWITH-WIEDEMANN SYNDROME BWS Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CHARGE SYNDROME Tags
Green Green List (high evidence)	CHRNG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Escobar syndrome, 265000 MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE Multiple pterygium syndrome, lethal type, 253290 PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE Tags
Green Green List (high evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 EDSMC1 Tags
Green Green List (high evidence)	COL11A1	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Marshall Syndrome, OMIM:154780 Stickler syndrome, type II, OMIM:604841 Tags
Green Green List (high evidence)	COL11A2	4 reviews 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 Phenotypes Stickler syndrome, type III STICKLER SYNDROME, NONOCULAR TYPE OSMED STL3 Non-ocular Stickler syndrome Cleft palate Tags
Green Green List (high evidence)	COL2A1	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes STICKLER SYNDROME, TYPE I (STL1), 108300 Orofacial Clefting with skeletal features Stickler Syndrome Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss) Stickler sydrome, type I, non syndromic ocular STICKLER SYNDROME, VITREOUS TYPE 1 STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM STICKLER SYNDROME, TYPE I STL1 Cleft palate Tags
Green Green List (high evidence)	COL9A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type IV, OMIM:614134 Tags
Green Green List (high evidence)	COLEC10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC SYNDROME 3 3MC3 Tags
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC SYNDROME 2 3MC2 Tags
Green Green List (high evidence)	CTCF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 MRD21 Tags
Green Green List (high evidence)	CTNND1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes BLEPHAROCHEILODONTIC Cleft palate Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SMITH-LEMLI-OPITZ SYNDROME SLOS Tags
Green Green List (high evidence)	DHODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes POSTAXIAL ACROFACIAL DYSOSTOSIS POADS = MILLER Tags
Green Green List (high evidence)	DLL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME Tags
Green Green List (high evidence)	DVL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 DRS2 Tags
Green Green List (high evidence)	DVL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Robinow syndrome, autosomal dominant 3, 616894 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Green Green List (high evidence)	DYNC2LI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY SRTD15 Tags
Green Green List (high evidence)	EBP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MEND SYNDROME MEND Tags
Green Green List (high evidence)	EDNRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA MFDA Cleft palate Tags
Green Green List (high evidence)	EFNB1	1 review 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 Phenotypes Craniofrontonasal dysplasia, OMIM:304110 Tags
Green Green List (high evidence)	EFTUD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE MFDGA Tags
Green Green List (high evidence)	EIF2S3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE MRXSBRK Tags
Green Green List (high evidence)	EIF4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cleft palate Robin sequence with cleft mandible and limb anomalies, 268305 Richieri-Costa-Pereira syndrome Tags
Green Green List (high evidence)	EOGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ADAMS-OLIVER 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 Phenotypes Vici syndrome, 242840 Tags
Green Green List (high evidence)	ESCO2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Roberts-SC phocomelia syndrome, OMIM:268300 Roberts-SC phocomelia syndrome, MONDO:0100253 Tags
Green Green List (high evidence)	EYA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes BRANCHIOOTORENAL SYNDROME 1 BOR1 Tags
Green Green List (high evidence)	FAM20C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Raine syndrome, 259775 Tags
Green Green List (high evidence)	FGD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes AARSKOG-SCOTT SYNDROME AAS Tags
Green Green List (high evidence)	FGFR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hartsfield syndrome, 615465 Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 Kallmann syndrome 2 Tags
Green Green List (high evidence)	FGFR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes APERT SYNDROME Tags
Green Green List (high evidence)	FLNA	4 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green UKGTN Phenotypes Frontometaphyseal dysplasia 1, OMIM:305620 Melnick-Needles syndrome, OMIM:309350 Otopalatodigital syndrome, type I, OMIM:311300 Otopalatodigital syndrome, type II, OMIM:304120 Tags
Green Green List (high evidence)	FLNB	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Skeletal dysplasia with midline cleft palate Orofacial Clefting with skeletal features Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460 Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250 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 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 Phenotypes LYMPHEDEMA-DISTICHIASIS SYNDROME Cleft palate Tags
Green Green List (high evidence)	FRAS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Fraser syndrome, 219000 Tags
Green Green List (high evidence)	GDF11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Vertebral hypersegmentation and orofacial anomalies (VHO), OMIM:619122 Tags
Green Green List (high evidence)	GJA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Oculodentodigital dysplasia, OMIM:164200 Tags
Green Green List (high evidence)	GLI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pallister-Hall syndrome, 146510 Tags
Green Green List (high evidence)	GPC3	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 Phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 SGBS1 Tags
Green Green List (high evidence)	GRHL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes VAN DER WOUDE SYNDROME 2 Cleft lip 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 Phenotypes CORNELIA DE LANGE SYNDROME 5 CDLS5 Tags
Green Green List (high evidence)	HYAL2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes cleft lip/palate MONDO:0016044 triatrial heart MONDO:0015450 Tags gene-checked
Green Green List (high evidence)	HYLS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hydrolethalus syndrome, 236680 (includes Cleft palate, Lateral or midline cleft lip, Lower lip cleft) Tags
Green Green List (high evidence)	ICK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags new-gene-name
Green Green List (high evidence)	IFT140	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY SRTD9 Tags
Green Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY SRTD10 Tags
Green Green List (high evidence)	IFT80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY SRTD2 Tags
Green Green List (high evidence)	IMPAD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate) Tags new-gene-name
Green Green List (high evidence)	IRF6	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Orofacial cleft 6, 608864 Cleft Lip with or without Cleft Palate Orofacial Clefting with skeletal features Cleft lip +/- palate- unilateral or bilateral cleft palate lip pits VAN DER WOUDE SYNDROME 1 VWS1, POPLITEAL PTERYGIUM SYNDROME PPS Cleft palate Tags
Green Green List (high evidence)	22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain ISCA-37393-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome 115470 Tags
Green Green List (high evidence)	8p23.1 recurrent region (includes GATA4) Gain ISCA-37423-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele. mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly) congenital heart disease 8p23.1 duplication syndrome Tags watchlist
Green Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss ISCA-37433-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 188400 immune deficiency renal anomalies 22q11.2 deletion syndrome 192430 facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay cleft palate, polydactyly polyhydramnios Velocardiofacial syndrome diaphragmatic hernia DiGeorge syndrome congenital heart disease Learning difficulties Tags
Green Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37446-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 188400 neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells micrognathia clefting Hearing deficits Velocardiofacial syndrome cardiac malformations DiGeorge syndrome Tags
Green Green List (high evidence)	7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain ISCA-37467-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype 174500 Triphalangeal thumbpolysyndactyly syndrome syndactyly type IV with tibial hypoplasia Tags
Green Green List (high evidence)	SOX9 upstream enhancer region Loss ISCA-46303-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	KAT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 MRD32 Tags
Green Green List (high evidence)	KCNJ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Tags
Green Green List (high evidence)	KDM6A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Kabuki syndrome 2, 300867 Tags
Green Green List (high evidence)	KIAA0586	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY SRTD14 Tags
Green Green List (high evidence)	KIF1BP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 GOSHS Tags new-gene-name
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ACROCALLOSAL SYNDROME ACLS Tags
Green Green List (high evidence)	KMT2D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Kabuki syndrome 1, 147920 Tags
Green Green List (high evidence)	MAP3K7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Frontometaphyseal dysplasia 2, 617137 FMD2 autosomal dominant FMD AD-FMD Tags
Green Green List (high evidence)	MAPRE2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Symmetric circumferential skin creases, congenital, 2, 616734 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC SYNDROME 1 3MC1 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 Phenotypes IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME Tags
Green Green List (high evidence)	MED12	4 reviews 3 green 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 Green NHS GMS Phenotypes Hardikar syndrome, OMIM:612726 cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997 Tags Skewed X-inactivation
Green Green List (high evidence)	MED25	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Basel-Vanagait-Smirin-Yosef syndrome OMIM:616449 Tags founder-effect
Green Green List (high evidence)	MEIS2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Cleft palate, cardiac defects, and mental retardation, OMIM:600987 Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970 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 Phenotypes OPITZ GBBB SYNDROME, TYPE I GBBB1 Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Meckel syndrome 1, 249000 MKS1 Meckel-Gruber Syndrome (MGS) Tags
Green Green List (high evidence)	MSX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Orofacial cleft 5, OMIM:608874 Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600 Tags
Green Green List (high evidence)	MYMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 Carey-Fineman-Ziter syndrome, MONDO:0009700 Tags
Green Green List (high evidence)	NECTIN1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cleft lip/Palate ectodermal dysplasia syndrome, 225060 Orofacial cleft 7, 225060 Cleft Lip with or without Cleft Palate Zlotogora-Ogur syndrome CLP, partial syndactyly of digits, intellectual disability, dysmorphism Ectodermal dysplasia, Margarita Island type Cleft lip Tags
Green Green List (high evidence)	NEDD4L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Cleft palate, toe syndactyly, periventricular nodular heterotopia Periventricular nodular heterotopia 7 (includes clefting), 617201 Cleft palate Tags
Green Green List (high evidence)	NEK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY SRTD6 Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CORNELIA DE LANGE SYNDROME 1 CDLS1 Tags
Green Green List (high evidence)	NOTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME 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 Phenotypes OROFACIODIGITAL SYNDROME I OFD1 Tags
Green Green List (high evidence)	PAX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes WAARDENBURG Tags
Green Green List (high evidence)	PHF8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME MRXSSD Cleft lip Tags
Green Green List (high evidence)	PIEZO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ARTHROGRYPOSIS, DISTAL, TYPE 3 DA3, MARDEN-WALKER SYNDROME MWKS Tags
Green Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 MCAHS1 Tags
Green Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 HPMRS1 Tags
Green Green List (high evidence)	PLCB4	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Auriculocondylar syndrome 2, OMIM:614669 auriculocondylar syndrome 2, MONDO:0013845 Tags
Green Green List (high evidence)	POLR1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Treacher-Collins syndrome 4 OMIM:618939 treacher collins syndrome 4 MONDO:0030067 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes TREACHER COLLINS SYNDROME 3 TCS3 Tags
Green Green List (high evidence)	POLR1D	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Treacher Collins syndrome 2, OMIM:613717 Tags
Green Green List (high evidence)	PORCN	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Focal dermal hypoplasia, 305600 GOLTZ SYNDROME Tags
Green Green List (high evidence)	PTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Holoprosencephaly 7, OMIM:610828 Basal cell nevus syndrome 1, OMIM:109400 Tags
Green Green List (high evidence)	RAD21	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Cornelia de Lange syndrome 4, OMIM:614701 Tags
Green Green List (high evidence)	RBM10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes TARP SYNDROME TARPS Cleft palate Tags
Green Green List (high evidence)	ROR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Robinow syndrome, autosomal recessive, OMIM:268310 Tags
Green Green List (high evidence)	RPL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DIAMOND-BLACKFAN ANEMIA 6 DBA6 Cleft palate Tags
Green Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DIAMOND-BLACKFAN ANEMIA 10 DBA10 Cleft palate Tags
Green Green List (high evidence)	SALL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes DUANE-RADIAL RAY SYNDROME DRRS Tags
Green Green List (high evidence)	SATB2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Glass syndrome Chromosome 2q32-q33 deletion syndrome Orofacial Clefting with skeletal features Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas GLASS SYNDROME GLASS Cleft palate Tags
Green Green List (high evidence)	SCARF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VAN DEN ENDE-GUPTA SYNDROME VDEGS Tags
Green Green List (high evidence)	SF3B2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Craniofacial microsomia Tags
Green Green List (high evidence)	SF3B4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ACROFACIAL DYSOSTOSIS 1, NAGER TYPE AFD1 Tags
Green Green List (high evidence)	SHH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes HOLOPROSENCEPHALY 3 HPE3 Tags
Green Green List (high evidence)	SIX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BRANCHIOOTIC SYNDROME 3 BOS3 Tags
Green Green List (high evidence)	SIX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes HOLOPROSENCEPHALY 2 HPE2 Tags
Green Green List (high evidence)	SIX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BRANCHIOOTORENAL SYNDROME 2 BOR2 Tags
Green Green List (high evidence)	SKI	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME SGS Tags
Green Green List (high evidence)	SLC26A2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Orofacial Clefting with skeletal features Atelosteogenesis II (includes clefting), 256050 De la Chapelle dysplasia (includes clefting), 256050 McAlister Dysplasia Diastrophic dysplasia (includes clefting), 222600 Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600 DIASTROPHIC DYSPLASIA DTD Tags
Green Green List (high evidence)	SMAD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME 3 LDS3 Tags
Green Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MYHRE SYNDROME MYHRS 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 Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370 Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 Tags
Green Green List (high evidence)	SMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CORNELIA DE LANGE SYNDROME 3 CDLS3 Tags
Green Green List (high evidence)	SMS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE MRXSSR Tags
Green Green List (high evidence)	SNRPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CEREBROCOSTOMANDIBULAR SYNDROME CCMS Cleft palate Tags
Green Green List (high evidence)	SON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ZTTK SYNDROME ZTTKS Tags
Green Green List (high evidence)	SOX9	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Orofacial Clefting with Skeletal Features Cleft palate with skeletal abnormalities CAMPOMELIC DYSPLASIA,114290 Acampomelic campomelic dysplasia, 114290 Campomelic dysplasia with autosomal sex reversal, 114290 CAMPOMELIC DYSPLASIA Cleft palate Tags
Green Green List (high evidence)	SPECC1L	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Facial clefting, oblique, 1, 600251 Opitz GBBB syndrome, type II (with clefting), 145410 OPITZ GBBB SYNDROME, TYPE II GBBB2 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261 Tags
Green Green List (high evidence)	TBX1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes DiGeorge syndrome, OMIM:188400 Conotruncal anomaly face syndrome, OMIM:217095 Velocardiofacial syndrome, OMIM:192430 Tags deletions structural-variant
Green Green List (high evidence)	TBX22	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cleft palate with ankyloglossia, 303400 sub mucous cleft palate cleft lip CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED CPX Cleft palate Tags
Green Green List (high evidence)	TCOF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes TREACHER COLLINS SYNDROME 1 TCS1 Tags
Green Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OROFACIODIGITAL SYNDROME IV OFD4 Tags
Green Green List (high evidence)	TELO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes YOU-HOOVER-FONG SYNDROME YHFS Tags
Green Green List (high evidence)	TFAP2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes BRANCHIOOCULOFACIAL SYNDROME BOFS Cleft lip Tags
Green Green List (high evidence)	TGDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CATEL-MANZKE SYNDROME CATMANS Cleft palate Tags
Green Green List (high evidence)	TGFB3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME 5 LDS5 Tags
Green Green List (high evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME 1 LDS1 Tags
Green Green List (high evidence)	TGFBR2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Loeys-Dietz syndrome Loeys-Dietz syndrome 2, 610168 Tags
Green Green List (high evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME CFSMR Cleft palate Tags
Green Green List (high evidence)	TP63	3 reviews 2 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 Phenotypes Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292 Hay-Wells syndrome, OMIM:106260 Limb-mammary syndrome, OMIM:603543 Orofacial cleft 8, OMIM:618149 Rapp-Hodgkin syndrome, OMIM:129400 Split-hand/foot malformation 4, OMIM:605289 Tags
Green Green List (high evidence)	TRAPPC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mental retardation, autosomal recessive 13, OMIM:613192 Tags
Green Green List (high evidence)	TRIM37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MULIBREY NANISM Tags
Green Green List (high evidence)	TUBB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 CSCSC1 Tags
Green Green List (high evidence)	TXNL4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes BURN-MCKEOWN SYNDROME BMKS Cleft palate 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 Phenotypes Mental retardation, X-linked 99 300919 XLR Mental retardation, X-linked 99, syndromic, female-restricted 300968 Tags
Green Green List (high evidence)	WNT5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 DRS1 Tags
Green Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DESBUQUOIS DYSPLASIA 2 DBQD2 Tags
Green Green List (high evidence)	ZEB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes MOWAT-WILSON SYNDROME MOWS Tags
Green Green List (high evidence)	ZIC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes HOLOPROSENCEPHALY 5 HPE5 Tags
Green Green List (high evidence)	ZIC3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS VACTERLX Tags
Green Green List (high evidence)	ZSWIM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ACROMELIC FRONTONASAL DYSOSTOSIS AFND Tags
Amber Amber List (moderate evidence)	ALX1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Frontonasal dysplasia 3, OMIM:613456 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	ALX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes FRONTONASAL DYSPLASIA 1 FND1 Frontorhiny Tags
Amber Amber List (moderate evidence)	AMOTL1	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes cleft lip/palate MONDO:0016044 imperforate anus dysmorphism Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	ARID1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Coffin-Siris syndrome 2, OMIM:614607 Tags
Amber Amber List (moderate evidence)	ARID1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Coffin-Siris syndrome 1, OMIM:135900 Tags
Amber Amber List (moderate evidence)	ATR	2 reviews	Not set	Sources Expert Review Amber Phenotypes SECKEL SYNDROME 1 SCKL1 Tags
Amber Amber List (moderate evidence)	AUTS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 26, OMIM:615834 Tags
Amber Amber List (moderate evidence)	B3GALT6	1 review	Not set	Sources Expert Review Amber Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES SEMDJL1 Ehlers-Danlos syndrome, progeroid type, 2 615349 Tags
Amber Amber List (moderate evidence)	B4GALT7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES EDSSLA Tags
Amber Amber List (moderate evidence)	BUB1B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 MVA1 Tags
Amber Amber List (moderate evidence)	CDC45	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Meier-Gorlin syndrome 7, 617063 MGORS7 Tags
Amber Amber List (moderate evidence)	CHD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Sifrim-Hitz-Weiss syndrome, OMIM:617159 Tags
Amber Amber List (moderate evidence)	CNTNAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypomyelinating neuropathy, congenital, 3, OMIM:618186 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	COL9A2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type V, OMIM:614284 Tags
Amber Amber List (moderate evidence)	DDX3X	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 Tags
Amber Amber List (moderate evidence)	DDX59	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes OROFACIODIGITAL SYNDROME V OFD5 Tags
Amber Amber List (moderate evidence)	DLX4	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes ?Orofacial cleft 15, 616788 nonsyndromic cleft/lip palate (CL/P) OROFACIAL CLEFT 15 OFC15 Tags
Amber Amber List (moderate evidence)	ECEL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis, distal, type 5D, OMIM:615065 Tags
Amber Amber List (moderate evidence)	ESRP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes cleft lip Tags
Amber Amber List (moderate evidence)	FBXO11	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes cleft lip Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 Tags
Amber Amber List (moderate evidence)	FGFR3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Muenke syndrome, OMIM:602849 Hypochondroplasia, OMIM:146000 Tags
Amber Amber List (moderate evidence)	FOXP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Speech-language disorder-1, 602081 Tags
Amber Amber List (moderate evidence)	FTO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Growth retardation, developmental delay, facial dysmorphism, 612938 Lethal polymalformative syndrome, Boissel type Tags
Amber Amber List (moderate evidence)	GATA3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 Barakat syndrome HDR syndrome Tags
Amber Amber List (moderate evidence)	GLI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Culler-Jones syndrome, OMIM:615849 Holoprosencephaly 9, OMIM:610829 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	GNB1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973 intellectual disability, autosomal dominant 42 MONDO:0014855 Tags
Amber Amber List (moderate evidence)	HNRNPK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Au-Kline syndrome, OMIM:616580 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	IFT52	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102 Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 Tags
Amber Amber List (moderate evidence)	KAT5	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face Tags
Amber Amber List (moderate evidence)	KAT6B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Genitopatellar syndrome, OMIM:606170 SBBYSS syndrome, OMIM:603736 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	KDM1A	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Cleft palate,psychomotor retardation,distinctive facial features, 616728 Tags watchlist
Amber Amber List (moderate evidence)	KMT2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Wiedemann-Steiner syndrome, OMIM:605130 Tags
Amber Amber List (moderate evidence)	LMNA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes RESTRICTIVE DERMOPATHY, LETHAL Tags
Amber Amber List (moderate evidence)	LRRC32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 Tags founder-effect
Amber Amber List (moderate evidence)	MED13L	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789 MRFACD Cleft palate Tags watchlist
Amber Amber List (moderate evidence)	MEOX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE KFS2 Tags
Amber Amber List (moderate evidence)	NEB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita 6, OMIM:619334 Tags
Amber Amber List (moderate evidence)	NOTCH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hajdu-Cheney syndrome, OMIM:102500 Tags
Amber Amber List (moderate evidence)	PGAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It, OMIM:14921 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PHGDH	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes NEU-LAXOVA SYNDROME 1 NLS1 Tags
Amber Amber List (moderate evidence)	PLEKHA7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes cleft lip Tags
Amber Amber List (moderate evidence)	POGZ	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes White-Sutton syndrome, OMIM:616364 Tags
Amber Amber List (moderate evidence)	POLR1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes cleft palte Tags
Amber Amber List (moderate evidence)	RARB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MICROPHTHALMIA, SYNDROMIC 12 MCOPS12 Tags
Amber Amber List (moderate evidence)	RBPJ	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes ADAMS-OLIVER SYNDROME Tags
Amber Amber List (moderate evidence)	RERE	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes clefting Tags
Amber Amber List (moderate evidence)	RPS28	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS DBA15 Cleft palate Tags
Amber Amber List (moderate evidence)	RYR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes CENTRAL CORE DISEASE OF MUSCLE CCD Tags
Amber Amber List (moderate evidence)	SCUBE3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 Tags
Amber Amber List (moderate evidence)	SEC23A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes CRANIOLENTICULOSUTURAL DYSPLASIA CLSD Tags
Amber Amber List (moderate evidence)	SEPT9	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes AMYOTROPHY, HEREDITARY NEURALGIC HNA Tags new-gene-name
Amber Amber List (moderate evidence)	SMARCA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Coffin-Siris syndrome 4, OMIM:614609 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	SMARCB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Coffin-Siris syndrome 3, OMIM:614608 Tags
Amber Amber List (moderate evidence)	SMG9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes HEART AND BRAIN MALFORMATION SYNDROME HBMS Tags
Amber Amber List (moderate 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 Amber Literature Phenotypes Holoprosencephaly 13, X-linked, OMIM:301043 Mullegama-Klein-Martinez syndrome, OMIM:301022 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	TBL1XR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Pierpont syndrome, OMIM:602342 Tags
Amber Amber List (moderate evidence)	TBX15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes COUSIN SYNDROME Tags
Amber Amber List (moderate evidence)	TRAF7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cardiac, facial, and digital anomalies with developmental delay, OMIM:618164 Tags
Amber Amber List (moderate evidence)	TRRAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental delay with or without dysmorphic facies and autism, OMIM:618454 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	TTC21B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY SRTD4 Tags
Amber Amber List (moderate evidence)	UBE3B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Kaufman oculocerebrofacial syndrome, OMIM:244450 Tags
Amber Amber List (moderate evidence)	WDR19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY SRTD5 Tags
Amber Amber List (moderate evidence)	WDR34	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY SRTD11 Tags new-gene-name
Amber Amber List (moderate evidence)	WDR35	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY SRTD7 Tags
Amber Amber List (moderate evidence)	WDR60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY SRTD8 Tags new-gene-name
Amber Amber List (moderate evidence)	ZBTB24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 ICF2 Tags
Amber Amber List (moderate 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 Amber Literature Phenotypes Wieacker-Wolff syndrome, female-restricted, OMIM:301041 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	ZMPSTE24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes RESTRICTIVE DERMOPATHY, LETHAL Tags
Red Red List (low evidence)	ACBD5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Retinal dystrophy with leukodystrophy, OMIM:618863 Tags
Red Red List (low evidence)	ADNP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Helsmoortel-van der Aa syndrome, OMIM:615873 Tags
Red Red List (low evidence)	ALG9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes GILLESSEN-KAESBACH-NISHIMURA SYNDROME GIKANIS Tags
Red Red List (low evidence)	ARCN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164 Tags
Red Red List (low evidence)	ATRX	1 review 1 red	Not set	Sources Expert Review Red Phenotypes MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 MRXHF1 Tags
Red Red List (low evidence)	B3GAT3	1 review 1 red	Not set	Sources Expert Review Red Phenotypes MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS JDSCD Tags
Red Red List (low evidence)	BMP4	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Orofacial cleft 11, 600625 Cleft Lip with or without Cleft Palate Orofacial Cleft Cleft lip with or without cleft palate, non syndromic, 11 MICROPHTHALMIA, SYNDROMIC 6 MCOPS6, OROFACIAL CLEFT 11 OFC11 Cleft lip Tags
Red Red List (low evidence)	CANT1	1 review 1 red	Not set	Sources Expert Review Red Phenotypes DESBUQUOIS DYSPLASIA 1 DBQD1 Tags
Red Red List (low evidence)	CASK	1 review 1 red	Not set	Sources Expert Review Red Phenotypes MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA MICPCH Tags
Red Red List (low evidence)	CDK13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Tags
Red Red List (low evidence)	CDKL5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Tags
Red Red List (low evidence)	CHD1	1 review	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft palate Tags
Red Red List (low evidence)	CHD3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Snijders Blok-Campeau syndrome, OMIM:618205 Tags
Red Red List (low evidence)	CHSY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Temtamy preaxial brachydactyly syndrome, 605282 TPBS Tags
Red Red List (low evidence)	CKAP2L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Filippi syndrome, 272440 Tags
Red Red List (low evidence)	COL9A3	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft palate Tags
Red Red List (low evidence)	CSNK2A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Tags
Red Red List (low evidence)	DIS3L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Perlman syndrome, 267000 Tags
Red Red List (low evidence)	DLG1	1 review 1 red	Unknown	Sources Literature Phenotypes Non-syndromic cleft lip with or without cleft palate Tags
Red Red List (low evidence)	DNMT3B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000 Tags
Red Red List (low evidence)	EDN1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft palate Tags
Red Red List (low evidence)	EP300	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Rubinstein-Taybi syndrome 2, OMIM:613684 Tags
Red Red List (low evidence)	FAM111A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Gracile bone dysplasia 602361 Tags
Red Red List (low evidence)	FANCL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group L, 614083 Tags
Red Red List (low evidence)	FOXE1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft palate Tags
Red Red List (low evidence)	FREM2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Fraser syndrome, 219000 Tags
Red Red List (low evidence)	GATA6	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes CONOTRUNCAL HEART MALFORMATIONS CTHM Tags
Red Red List (low evidence)	GDF1	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes CONOTRUNCAL HEART MALFORMATIONS CTHM Tags
Red Red List (low evidence)	GMNN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Meier-Gorlin syndrome 6, 616835 Tags
Red Red List (low evidence)	GNAI3	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft palate Tags
Red Red List (low evidence)	GRIP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Fraser syndrome, 219000 Tags
Red Red List (low evidence)	GYPE	2 reviews	Unknown	Sources Tags
Red Red List (low evidence)	HOXA2	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Victorian Clinical Genetics Services Phenotypes Microtia, Hearing Impairment, and Cleft Palate Ear anomalies and orofacial clefting ?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) Cleft palate Tags
Red Red List (low evidence)	INTS1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft palate Tags
Red Red List (low evidence)	KANSL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Koolen-De Vries syndrome, 610443 KDVS Tags
Red Red List (low evidence)	KIF22	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 SEMDJL2 Tags
Red Red List (low evidence)	LMX1B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Nail-patella syndrome, 161200 Tags
Red Red List (low evidence)	MAGEL2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Schaaf-Yang syndrome, OMIM:615547 Tags
Red Red List (low evidence)	METTL23	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mental retardation, autosomal recessive 44, 615942 MRT44 Tags
Red Red List (low evidence)	MYCN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Cleft lip with or without cleft palate, MONDO:0016034 Tags
Red Red List (low evidence)	NBN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Nijmegen breakage syndrome, 251260 NBS Tags
Red Red List (low evidence)	NKX2-5	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes CONOTRUNCAL HEART MALFORMATIONS CTHM Tags
Red Red List (low evidence)	NKX2-6	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes CONOTRUNCAL HEART MALFORMATIONS CTHM Tags
Red Red List (low evidence)	NSDHL	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS Tags
Red Red List (low evidence)	PGAP2	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 HPMRS3 Tags
Red Red List (low evidence)	PIGA	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 MCAHS2 Tags Skewed X-inactivation
Red Red List (low evidence)	PIGL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME CHIME Tags
Red Red List (low evidence)	PIK3R2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 Tags
Red Red List (low evidence)	PLEKHA5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes cleft lip Tags
Red Red List (low evidence)	POLA1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Tags
Red Red List (low evidence)	POLR2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603 Tags
Red Red List (low evidence)	POMT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 Tags
Red Red List (low evidence)	POMT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 Tags
Red Red List (low evidence)	PQBP1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Phenotypes Renpenning syndrome, 309500 Tags
Red Red List (low evidence)	PSAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neu-Laxova syndrome 2, 616038 Tags
Red Red List (low evidence)	PTDSS1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes Lenz-Majewski hyperostotic dwarfism, 151050 progressive sclerosis and hyperostosis of skull, vertebra and tubular bones growth restriction broad prominent forehead delayed closure of the fontanelles brachydactyly of fingers and toes proximal symphalangism cutis laxa dental enamel hypoplasia choanal atresia Tags
Red Red List (low evidence)	PUF60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Verheij syndrome, OMIM:615583 Tags
Red Red List (low evidence)	RAI1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes SMITH-MAGENIS SYNDROME SMS Tags
Red Red List (low evidence)	RBM8A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME TAR Tags
Red Red List (low evidence)	RPL11	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft palate Tags
Red Red List (low evidence)	RPS17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes DIAMOND-BLACKFAN ANEMIA 4 DBA4 Tags
Red Red List (low evidence)	RPS19	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes DIAMOND-BLACKFAN ANEMIA 1 DBA1 Tags
Red Red List (low evidence)	RSPO2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft lip Tags
Red Red List (low evidence)	SELENOI	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft palate Tags
Red Red List (low evidence)	SIN3A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Witteveen-Kolk syndrome, OMIM:613406 Tags
Red Red List (low evidence)	SMAD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Loeys-Dietz syndrome Tags
Red Red List (low evidence)	SMOC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MICROPHTHALMIA WITH LIMB ANOMALIES MLA Tags
Red Red List (low evidence)	SOX11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 Tags
Red Red List (low evidence)	SOX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes MICROPHTHALMIA, SYNDROMIC 3 MCOPS3 Tags
Red Red List (low evidence)	SOX5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Tags
Red Red List (low evidence)	STIL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes 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 Phenotypes MICROPHTHALMIA, SYNDROMIC 9 MCOPS9 Tags
Red Red List (low evidence)	STXBP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 EIEE4 Tags
Red Red List (low evidence)	SUMO1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Orofacial cleft 10, 613705 Cleft Lip with or without Cleft Palate Tags
Red Red List (low evidence)	TCF12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Craniosynostosis 3, OMIM:615314 Tags
Red Red List (low evidence)	TFAP2B	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft lip Tags
Red Red List (low evidence)	TGFB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Loeys-Dietz syndrome 4, 614816 Tags
Red Red List (low evidence)	TSR2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft palate Tags
Red Red List (low evidence)	TWIST2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes BARBER-SAY SYNDROME BBRSAY Tags
Red Red List (low evidence)	UBB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Phenotypes Cleft palate, isolated, 119540 Tags
Red Red List (low evidence)	UQCC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 Tags
Red Red List (low evidence)	VAX1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MICROPHTHALMIA, SYNDROMIC 11 MCOPS11 Tags
Red Red List (low evidence)	WASHC5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes RITSCHER-SCHINZEL SYNDROME 1 RTSC1 Tags
Red Red List (low evidence)	WDR26	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Tags
Red Red List (low evidence)	WNT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE TETAMS Tags
Red Red List (low evidence)	YAP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION COB1 Tags
No list No list	FSHMD1A	3 reviews	Other - please specifiy in evaluation comments	Sources Expert Review Removed Phenotypes Orofacial Clefting with skeletal features Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only

Major version comments

2023-03-22 15:28 Arina Puzriakova (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 14:18 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-12-10 10:58 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.60) was signed off under NHS Genomic Medicine Service governance on 10th Dec 2019. The panel was promoted to the next major version (version 2.0) as a result of this.

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

Clefting (Version 4.108)

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