| - GRCh37:
- Chr8:141711049
- GRCh38:
- Chr8:140700950
| PTK2 | R124*, R340*, R500*, R506*, R640*, R657*, R665*, R672*, R678*, R693*, R701*, R707*, R708*, R714*, R719*, R721*, R735*, R742*, R778*, R791*, R814*, R819*, R820*, R821*, R826*, R827*, R836*, R840*, R848*, R855*, R858*, R861*, R868*, R871*, R899* | Autism, Deeply set eye, Epicanthus,
Mandibular prognathia, Bulbous nose, Hypotonia,
Failure to thrive, Dental crowding, High palate,
Hypertonia, Shallow orbits ...see more | Uncertain significance
(Mar 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:4920574
- GRCh38:
- Chr12:4811408
| KCNA6 | V456D | Focal-onset seizure, Generalized-onset seizure, Pes planus,
Cerebellar ataxia, Moderate global developmental delay, Hypermetropia,
Inversion of nipple, Epicanthus, Macrocephaly,
Short philtrum, Atypical behavior ...see more | Likely pathogenic
(Jan 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:76350410
- GRCh38:
- Chr6:75640694
| SENP6 | R157* | Synophrys, Epicanthus, High, narrow palate,
Delayed speech and language development | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr17:4798765
- GRCh38:
- Chr17:4895470
| MINK1 | L1032R, L1040R, L1049R, L1069R, L977R | Autism, Seizure, Epicanthus,
Delayed speech and language development, Attention deficit hyperactivity disorder | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:76784742-76784745
- GRCh38:
- Chr10:75024984-75024987
| KAT6B | R438fs, R352fs, R570fs, R787fs, R950fs, R778fs, R841fs, R1133fs | Intellectual disability, Telecanthus, Epicanthus,
Renal hypoplasia, Poor speech, Hypoplasia of the maxilla,
Abnormal facial shape, Bulbous nose, Vesicoureteral reflux,
Blepharophimosis | Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10398926-10398927
- GRCh38:
- Chr6:10398693-10398694
| TFAP2A | K340fs, K342fs, K348fs | Branchiooculofacial syndrome, Hypertelorism, Lens subluxation,
Epicanthus, Amblyopia, Abnormality of visual evoked potentials,
Iris coloboma, Nystagmus, High palate,
Low-set ears, EEG abnormalityEsotropia,
Short neck, Microphthalmia, ...see more | Pathogenic
(May 15, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:156656444-156866708
| LMBR1, MNX1, NOM1 | | Epicanthus, Laryngeal cleft, Abnormality of the pulmonary veins,
Penile hypospadias, Strabismus, Macrotia,
Delayed speech and language development, Triangular face, Short stature
| Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:156333296-156556779
| LMBR1, RNF32 | | Epicanthus, Laryngeal cleft, Abnormality of the pulmonary veins,
Penile hypospadias, Strabismus, Macrotia,
Delayed speech and language development, Triangular face, Short stature
| Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:53017640
- GRCh38:
- Chr18:55350409
| TCF4 | | Pitt-Hopkins syndrome, Anteverted nares, Epicanthus,
Global developmental delay, Feeding difficulties in infancy, Drooling,
Stereotypic movement disorder, Short nose | Pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| | | | Atrial septal defect, Pulmonary artery stenosis, Respiratory failure requiring assisted ventilation,
Sclerocornea, Square face, Long philtrum,
Secundum atrial septal defect, Congenital ectopic pupil, Wide nasal base,
Chin with horizontal crease, Corneal opacityProminent forehead,
Mild global developmental delay, Generalized opacification of the cornea, Epicanthus,
Ebstein anomaly, Anterior synechiae of the anterior chamber, Long palpebral fissure,
Premature birth, Shawl scrotum, Short neck,
Short nose, Mandibular prognathia, Broad forehead,
Cyanosis, Motor delay, Visual impairment,
...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Microcephaly, Finger syndactyly, Broad foot,
Delayed closure of the anterior fontanelle, Thin upper lip vermilion, Hypermetropia,
Ptosis, Pulmonic stenosis, Epicanthus,
Pectus excavatum, DyscalculiaOverfolded helix,
Recurrent otitis media, Prominent nasal bridge, Constipation,
Prominent nose, Specific learning disability, Macrotia,
Abnormal facial shape, Delayed speech and language development, Hypertonia,
Motor delay, Autistic behavior, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Intellectual disability, mild, Joint hypermobility, Psychotic episodes,
Abnormal emotion/affect behavior, Mild global developmental delay, Epicanthus,
Talipes equinovarus | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Hypertelorism, Macrocephaly, Dolichocephaly,
Hypotonia, Mild conductive hearing impairment, Severe global developmental delay,
Epicanthus, Overlapping toe, Short philtrum,
Delayed speech and language development, Micrognathia ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Atrial septal defect, Capillary hemangioma, 2-3 toe cutaneous syndactyly,
Mitral regurgitation, Aortic regurgitation, Reduced tendon reflexes,
Umbilical hernia, Abnormality of the nail, Entropion,
Hypotonia, EpicanthusPatent ductus arteriosus,
Micropenis, Horseshoe kidney, Short nose,
Single transverse palmar crease, Synophrys, Thin vermilion border,
Large earlobe, Abnormal facial shape, Hirsutism,
Inguinal hernia, Hydronephrosis, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Macrocephaly, Attention deficit hyperactivity disorder, Myopia,
Coarse hair, Impaired social interactions, Stereotypic movement disorder,
Global developmental delay, Thick vermilion border, Epicanthus,
Cryptorchidism, Low-set earsAbsent speech,
Autistic behavior, Seizure, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Ankle flexion contracture, Reduced visual acuity, Generalized non-motor (absence) seizure,
Preaxial hand polydactyly, Broad toe, Decreased fetal movement,
Impaired social interactions, Tracheomalacia, Stereotypic movement disorder,
Optic nerve hypoplasia, Thick vermilion borderHypoplastic helices,
1-2 finger syndactyly, Intellectual disability, severe, Severe global developmental delay,
Gastrostomy tube feeding in infancy, Epicanthus, Abnormality of eye movement,
Short philtrum, Abnormal facial shape, Delayed speech and language development,
Depressed nasal bridge, Downslanted palpebral fissures, Tall stature,
Nystagmus, Micrognathia, Posteriorly rotated ears,
Hearing impairment, Feeding difficulties, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Microcephaly, Inability to walk, Microretrognathia,
Posteriorly placed tongue, Intellectual disability, severe, Epicanthus,
Atresia of the external auditory canal, Abnormality of vision, Penile hypospadias,
Preauricular pit, Specific learning disabilityAbnormal facial shape,
Absent speech, Downslanted palpebral fissures, Tapered finger,
Spasticity, Microtia, Seizure,
...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Cerebral calcification, Thin upper lip vermilion, Growth delay,
Telecanthus, Global developmental delay, Short palpebral fissure,
Midface retrusion, Speech articulation difficulties, Epicanthus,
Wide nasal bridge, Abnormal facial shapeAnteverted nares,
Hyperactivity, ...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Attention deficit hyperactivity disorder, Increased mean corpuscular volume, Cortical dysplasia,
High, narrow palate, Gait imbalance, Poor motor coordination,
Chiari malformation, Unsteady gait, Facial asymmetry,
Ventricular septal defect, Global developmental delayHemihypertrophy,
Asthma, Heart murmur, Metopic synostosis,
Epicanthus, Corpus callosum, agenesis of, Poor head control,
Abnormal facial shape, Overgrowth, Scoliosis,
Hydrocephalus, Inguinal hernia, Atypical behavior,
Esotropia, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Hyperactive patellar reflex, Eczema, Global developmental delay,
Autoimmune hypoparathyroidism, Abnormality of the musculature, Epicanthus,
Long eyelashes, Speech apraxia, Wide mouth,
Wide nasal bridge, Abnormal facial shapeSeizure,
...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Microcephaly, Thin upper lip vermilion, Global developmental delay,
Upturned corners of mouth, Epicanthus, Anteverted nares,
Delayed speech and language development, Seizure, Micrognathia
| Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Abnormal cerebral white matter morphology, Myoclonus, Impaired social interactions,
Global developmental delay, Hypotonia, Tip-toe gait,
Medial flaring of the eyebrow, Epicanthus, EEG abnormality,
Short philtrum, Abnormal facial shapeDepressed nasal bridge,
Cerebral palsy, Seizure, ...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Hypoplasia of the frontal lobes, Abnormal muscle tone, Achalasia,
Joint laxity, Global developmental delay, Delayed myelination,
Abnormality of the gastrointestinal tract, EEG with abnormally slow frequencies, Prominent forehead,
Epicanthus, Abnormal facial shapeAbsent speech,
Autistic behavior, Abnormality of the ear, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Recurrent fractures, Coarse hair, Frontal upsweep of hair,
Abnormality of the outer ear, Telecanthus, Epicanthus,
Pectus excavatum, Osteoporosis, Abnormal facial shape,
Alopecia areata, Micrognathia ...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Abnormal earlobe morphology, Hypotonia, Epicanthus,
Scoliosis, Feeding difficulties | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Microcephaly, Accelerated skeletal maturation, Multiple palmar creases,
Thin upper lip vermilion, Growth delay, Global developmental delay,
Broad hallux phalanx, Epicanthus, Strabismus,
Hypoplastic labia majora, Overlapping toeShort philtrum,
Abnormal facial shape, Broad thumb, Cafe-au-lait spot,
Depressed nasal bridge, Craniosynostosis syndrome, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Hypertelorism, Bicuspid aortic valve, Global developmental delay,
Smooth philtrum, Abnormal number of hair whorls, Epicanthus,
Coarctation of aorta, Low-set, posteriorly rotated ears, Thickened helices,
Strabismus, Penile hypospadiasShort neck,
Thin vermilion border, Wide intermamillary distance, Wide nose,
Downslanted palpebral fissures, Bilateral cryptorchidism, Inguinal hernia,
...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Hypoplastic nasal bridge, Umbilical hernia, Epicanthus,
Hydrocele testis, Deeply set eye, Short nose,
Wide mouth, Macrotia, Hypertonia,
Brachycephaly, Short phalanx of finger ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Epicanthus, Clinodactyly of the 5th finger, Depressed nasal bridge,
Dysphasia, Scoliosis, Seizure
| Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Hypertelorism, Facial hyperostosis, Short columella,
Thickened skin, Delayed eruption of primary teeth, Abnormality of the tongue,
Gingival overgrowth, Concave nasal ridge, Long upper lip,
Epicanthus, Prominent noseMacrotia,
Mandibular prognathia, Depressed nasal bridge, Hirsutism,
Esotropia, ...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:89347633
- GRCh38:
- Chr16:89281225
| ANKRD11 | E1773* | Epicanthus, Cryptorchidism, Wide nasal bridge,
Astigmatism, Hypermetropia, Intellectual disability,
Esotropia, Retrognathia, Hypertelorism,
Global developmental delay | Pathogenic
(Jan 10, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr20:62069997
- GRCh38:
- Chr20:63438644
| KCNQ2 | P335L | Seizure, Abnormal facial shape, Intellectual disability, moderate,
Epicanthus, Autistic behavior, Early infantile epileptic encephalopathy with suppression bursts,
not provided | Pathogenic/Likely pathogenic
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23889113
- GRCh38:
- Chr14:23419904
| MYH7 | E1223K | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy, Sagittal craniosynostosis, Delayed gross motor development,
Primary dilated cardiomyopathy, Epicanthus, Lambdoidal craniosynostosis,
Muscular ventricular septal defect, Delayed speech and language development ...see more | Conflicting interpretations of pathogenicity
(Feb 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42490329
- GRCh38:
- Chr19:41986177
| ATP1A3 | S137F, S150F, S148F | Alternating hemiplegia of childhood 2, not provided, Dystonia 12,
Epicanthus, Ventriculomegaly, Abnormal earlobe morphology,
Depressed nasal bridge, Seizure | Pathogenic
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:112926882
- GRCh38:
- Chr12:112489078
| PTPN11 | R501K, R505K, R500K | Noonan syndrome, Inborn genetic diseases, Microcephaly,
Depressed nasal ridge, Epicanthus, Abnormal pinna morphology,
Wide nasal bridge, Short stature, Abnormality of cardiovascular system morphology,
not provided, RASopathy ...see more | Pathogenic
(Jun 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:21995261
- GRCh38:
- Chr12:21842327
| ABCC9 | R1154W, R865W | Macrocephaly, Left ventricular hypertrophy, Patent ductus arteriosus,
Joint hypermobility, Thick upper lip vermilion, Abnormality of the face,
Low anterior hairline, Epicanthus, Abnormal facial shape,
Large hands, Bulbous noseDepressed nasal bridge,
Tapered finger, Coarse facial features, Micrognathia,
Hypertrichotic osteochondrodysplasia Cantu type, not provided, Dilated cardiomyopathy 1O,
...see more | Pathogenic/Likely pathogenic
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:158630626
- GRCh38:
- Chr2:157774114
| ACVR1 | R206H | Inborn genetic diseases, not provided, Progressive myositis ossificans,
Epicanthus | Pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |