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.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

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

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

237 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
1 review
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

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