Description
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

See individual eligibility statements for these disorders, available here: https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/

11 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

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

257 Entities

236 reviewed, 139 green

List Entity Reviews Mode of inheritance Details
257 Entitiess
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)
B3GLCT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PETERS-PLUS 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)
COL11A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofacial Clefting with skeletal features
  • Stickler Syndrome
  • Cleft palate
Tags
Green Green List (high evidence)
COL11A2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Stickler syndrome, type III
  • STICKLER SYNDROME, NONOCULAR TYPE
  • OSMED
  • STL3
  • Non-ocular Stickler syndrome
  • Cleft palate
Tags
Green Green List (high evidence)
COL2A1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms
  • Autosomal recessive Stickler syndrome
  • Orofacial Clefting with skeletal features
  • Cleft palate
Tags
Green Green List (high evidence)
CTNND1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • BLEPHAROCHEILODONTIC
  • Cleft palate
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)
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)
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)
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
0 reviews
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
0 reviews
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
Green Green List (high evidence)
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss
Region
0 reviews
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
0 reviews
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
0 reviews
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)
KCNJ2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
  • Cleft palate
Tags
Green Green List (high evidence)
KIF1BP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome, 609460
  • GOSHS
Tags
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
  • Orofacial clefting
  • cardiac defects
  • intellectual disability
  • Cleft palate
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, 608874
  • Tooth agenesis, selective, 1, with or without orofacial cleft, 106600
  • CLP with dental anomalies
  • Cleft lip
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 254940
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)
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)
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)
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)
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)
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)
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)
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)
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)
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, cleft lip/palate syndrome 3, 604292
  • Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400
  • EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting)
  • AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260
  • Limb-mammary syndrome, 603543
  • ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
  • EEC3
  • Cleft lip
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)
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)
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)
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)
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)
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 Review Green
  • Expert list
Phenotypes
  • Meckel syndrome 6, 612284
  • MKS6
  • Meckel-Gruber syndrome
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)
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)
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
  • SRTD3
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)
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 SYNDROME
  • CFNS
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)
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 Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Vici syndrome, 242840
Tags
Green Green List (high evidence)
ESCO2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ROBERTS SYNDROME
  • RBS, SC PHOCOMELIA SYNDROME
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 Review Green
  • Expert list
  • 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
  • Orofacial Clefting with skeletal anomalies
  • Otopalatodigital syndrome, type I, 311300 (includes clefting)
  • Otopalatodigital syndrome, type II, 304120 (includes clefting)
  • Melnick-Needles syndrome, 309350 (includes clefting)
  • OTOPALATODIGITAL SYNDROME, TYPE I
  • OPD1, OTOPALATODIGITAL SYNDROME, TYPE II
  • OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1
  • FMD1
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)
FRAS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fraser syndrome, 219000
Tags
Green Green List (high evidence)
GJA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Oculodentodigital dysplasia,164200
  • ODDD
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)
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)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate)
  • ECO
Tags
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate)
Tags
Green Green List (high evidence)
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)
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)
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
  • CSCSC2
Tags
Green Green List (high evidence)
MASP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3MC SYNDROME 1
  • 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)
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)
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)
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)
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • TREACHER COLLINS SYNDROME 2
  • TCS2
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 Review Green
  • Expert list
  • 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
  • BASAL CELL NEVUS SYNDROME
  • BCNS, HOLOPROSENCEPHALY 7
  • HPE7
Tags
Green Green List (high evidence)
ROR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
  • RRS
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)
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)
SEPT9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • AMYOTROPHY, HEREDITARY NEURALGIC
  • HNA
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
  • CDLS2
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)
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)
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
  • MICCAP
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)
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)
TRAPPC9
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
  • MRT13
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)
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)
ALX3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • FRONTONASAL DYSPLASIA 1
  • FND1
  • Frontorhiny
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)
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
1 review
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 Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meier-Gorlin syndrome 7, 617063
  • MGORS7
Tags
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, 614284
  • Orofacial Clefting with skeletal features
  • Stickler syndrome
  • Cleft palate
Tags
Amber Amber List (moderate evidence)
DDX3X
2 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
  • MENTAL RETARDATION, X-LINKED 102
  • MRX102
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)
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 Review Amber
  • Expert list
  • 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)
GNB1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 42, 616973
Tags
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
  • SRTD16
Tags
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)
LMNA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • RESTRICTIVE DERMOPATHY, LETHAL
Tags
Amber Amber List (moderate evidence)
MED13L
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation and distinctive facial features with or without cardiac defects, 616789
  • MRFACD
  • Cleft palate
Tags
  • watchlist
Amber Amber List (moderate evidence)
MED25
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
  • BVSYS
Tags
  • founder-effect
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)
PHGDH
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • NEU-LAXOVA SYNDROME 1
  • NLS1
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)
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)
SEC23A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • CRANIOLENTICULOSUTURAL DYSPLASIA
  • CLSD
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)
TBX1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CONOTRUNCAL HEART MALFORMATIONS
  • CTHM
  • Cleft palate
Tags
  • deletions
  • structural-variant
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)
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)
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
  • SRTD11
Tags
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
  • SRTD8
Tags
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)
ZMPSTE24
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • RESTRICTIVE DERMOPATHY, LETHAL
Tags
Red Red List (low evidence)
ACBD5
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate
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)
ARHGAP29
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Research
  • Victorian Clinical Genetics Services
Phenotypes
  • cleft lip with or without cleft palate
  • Cleft palate
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)
BMP2
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate
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)
CHD1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate
Tags
Red Red List (low evidence)
CHSY1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
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)
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)
EIF4A3
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate
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 Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • 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)
KAT6B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Genitopatellar syndrome, 606170
  • GTPTS
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)
MED12
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Lujan-Fryns syndrome, 309520
  • Opitz-Kaveggia syndrome, 305450
  • OKS
  • submucous cleft palate
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)
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)
PGM1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate
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
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
  • MPPH1
Tags
Red Red List (low evidence)
PLCB4
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate
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 Review Red
  • Expert list
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)
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)
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)
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)
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)
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
  • MC3DN7
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)
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
  • locus-type-phenotype-only

Major version comments

Downloads

Download lists

Download Version