Description
This is a combined panel for deafness and congenital structural abnormalities.

This includes the disorders:  
•	Bilateral microtia
•	Ear malformations with hearing impairment
•	Familial hemifacial microsomia

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

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Maria Bitner-Glindzicz (UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Muriel Holder (Clinical Genetics, Guy's Hospital)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Ana Beleza (Bristol Regional Genetics Service)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Jun Shen (Harvard Medical School)

    Group: GeCIP domain
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

57 Entities

56 reviewed, 40 green

List Entity Reviews Mode of inheritance Details
57 Entitiess
Green Green List (high evidence)
BMP4
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microphthalmia, Syndromic 6, 607932
  • Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly
Tags
Green Green List (high evidence)
CDC6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • 613805
  • Meier-Gorlin syndrome 5, 613805
  • Neurology panel
  • Bilateral Microtia, 613805
  • Causes Meier-Gorlin EPS
  • syndromic features
Tags
Green Green List (high evidence)
CDT1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 613804
  • Meier-Gorlin syndrome 4, 613804
  • Causes Meier-Gorlin EPS
  • syndromic features
  • Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge
Tags
Green Green List (high evidence)
CHD7
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 214800
  • CHARGE syndrome, 214800
  • Bilateral Microtia, 214800
Tags
Green Green List (high evidence)
DHODH
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • 263750
  • Postaxial acrofacial dystostosis (POADS)
  • Miller syndrome, 263750
  • Causes Miller syndrome with bilateral microtia
  • syndromic features
  • Miller syndrome
  • postaxial acrofacial dysostosis
  • raniofacial abnormalities include underdevelopment of the cheekbones (malar hypoplasia)
  • an abnormally small lower jaw (micrognathia)
  • incomplete closure of the roof of the mouth (cleft palate)
  • small, protruding, “cup-shaped” ears
  • and/or absence of tissue (colobomas) from the lower eyelids
Tags
Green Green List (high evidence)
EDNRA
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibulofacial dysostosis with alopecia, 616367
  • mandibulofacial dysostosis
  • alopecia
  • bilateral microtia
Tags
  • mosaicism
Green Green List (high evidence)
EFTUD2
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement exclusion criteria
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 610536
  • Mandibulofacial dysostosis, Guion-Almeida type, 610536
  • Treacher Collins-like syndrome (mandibulofacial dysostosis) with microcephaly, microtia and malformations
Tags
Green Green List (high evidence)
EIF4A3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Robin sequence with cleft mandible and limb abnormalities, 268305
  • Richieri-Costa-Pereira syndrome
  • Microtia
  • short stature
  • Robin sequence
  • cleft mandible
  • hand anomalies
  • club foot
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
EYA1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement exclusion criteria
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • pre auricular pits
  • 113650
  • Familial hemifacial microsomia with preauricular pits
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Hearing loss panel
  • Otofaciocervical Syndrome
  • Branchio-oto-renal syndrome which includes microtia
Tags
Green Green List (high evidence)
FGF10
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • 149730
  • LADD syndrome, 149730
  • lacrimo auriculo dento digital syndrome
  • syndromic features
Tags
Green Green List (high evidence)
FGF3
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 610706
  • Hearing loss panel
  • Deafness, congenital with inner ear agenesis, microtia and microdontia, 610706
  • labyrinthine aplasia, microdontia, microtia
Tags
Green Green List (high evidence)
FGFR2
5 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
  • Apert syndrome 101200
  • Beare-Stevenson cutis gyrata syndrome 123790
  • Bent bone dysplasia syndrome 614592
  • Craniofacial-skeletal-dermatologic dysplasia, Pfeiffer syndrome 101600
  • Crouzon syndrome 123500
  • LADD syndrome
Tags
Green Green List (high evidence)
FGFR3
5 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 149730
  • LADD syndrome (lacrimo auriculo dento digital)
  • syndromic features
  • Achondroplasia 100800
  • Crouzon syndrome with acanthosis nigricans
Tags
Green Green List (high evidence)
FRAS1
5 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 219000
  • Fraser syndrome 219000
Tags
Green Green List (high evidence)
FREM2
5 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 248450
  • Causes Fraser syndrome with microtia
  • syndromic features
  • Fraser syndrome 219000
Tags
Green Green List (high evidence)
GNAI3
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • 602483
  • Causes AURICULOCONDYLAR syndrome with microtia
  • syndromic features
  • Auriculocondylar syndrome 1
  • Dysgnathia complex
Tags
Green Green List (high evidence)
GRIP1
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • 219000
  • Fraser syndrome
  • syndromic features
  • Fraser syndrome 219000
  • Causes Fraser syndrome
  • syndromic features
Tags
Green Green List (high evidence)
GSC
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • 602471
  • Short stature,auditory canal atresia,mandibular hypoplasia,skeletal abnormalities,602471
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
  • Causes SAMS syndrome
  • syndromic features
Tags
Green Green List (high evidence)
HMX1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 612109
  • Oculoauricular syndrome
  • syndromic features
  • Oculoauricular syndrome 612109
Tags
Green Green List (high evidence)
HOXA2
6 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Microtia, Hearing Impairment, and Cleft Palate
  • 612290
  • Microtia with or without hearing impairment (AD) 612290 AD, AR
  • Microtia, hearing impairment, and cleft palate (AR) 612290
  • dominant bilateral microtia
  • recessive family also reported
Tags
Green Green List (high evidence)
HSPA9
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Even-plus syndrome, 616854
  • EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS
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)
15q24 recurrent region (A-D) (includes SIN3A) Loss
ISCA-37396-Loss
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 15q24 deletion syndrome, 613406
  • PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology
  • developmental delay, severe speech problems
  • PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features
  • PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Tags
Green Green List (high evidence)
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
ISCA-37501-Loss
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 17q23.1-q23.2 deletion syndrome, 613355
  • PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities
  • PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Tags
Green Green List (high evidence)
KDM6A
7 reviews
1 green 3 red
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
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • Kabuki syndrome 2
Tags
Green Green List (high evidence)
KMT2D
7 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • Kabuki syndrome 1 147920
Tags
Green Green List (high evidence)
OFD1
2 reviews
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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Orofaciodigital syndrome type 1, 311200
Tags
Green Green List (high evidence)
ORC1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 224690
  • Meier Gorlin EPS
  • causes microtia and syndromic features
  • Meier-Gorlin syndrome 1
Tags
Green Green List (high evidence)
ORC4
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 613800
  • Meier-Gorlin EPS
  • causes syndromic features
Tags
Green Green List (high evidence)
ORC6
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 613803
  • Meier-Gorlin EPS
  • causes syndromic features
  • Meier-Gorlin syndrome 3
Tags
Green Green List (high evidence)
OTX2
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • Microphthalmia, syndromic 5
  • Agnathia-holoprosencephaly-situs inversus syndrome
  • Otocephaly-Dysgnathia Complex
Tags
Green Green List (high evidence)
PLCB4
5 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • 614669
  • Causes AURICULOCONDYLAR syndrome with microtia
  • syndromic features
  • Auriculocondylar syndrome 2
Tags
Green Green List (high evidence)
POLR1A
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • 3 afftected individuals with Cincinnati type mandibulofacial dysostosis, 616462. 1 de novo, inherited from an unaffected parent and 1 with parental status unknown
  • Acrofacial dysostosis, Cincinnati type, 616462
  • Microtia/ anotia
  • acrofacial dysostosis
  • micrognathia
Tags
Green Green List (high evidence)
POLR1C
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 248390
  • Causes Treacher Collins syndrome which is highly variable
  • Treacher Collins syndrome 3
Tags
Green Green List (high evidence)
POLR1D
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 613717
  • Treacher Collins syndorme which is highly variable
  • Treacher Collins syndrome 2
Tags
Green Green List (high evidence)
SALL1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 107480
  • Familial hemifacial microsomia with abnormal thumbs or anal anomaly
  • Bilateral Microtia, 107480
  • Townes-Brocks Syndrome, 107480
  • Hearing loss panel
Tags
Green Green List (high evidence)
SALL4
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Familial hemifacial microsomia with abnormal thumbs
  • hearing loss panel
  • Duane-radial ray syndrome, 607323
  • SALL4-Related Spectrum Dis
Tags
Green Green List (high evidence)
SF3B4
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • 154400
  • Acrofacial dysostosis 1,Nager type,154400
  • NAGER ACROFACIAL DYSOSTOSIS
  • SYNDROMIC FEATURES
Tags
Green Green List (high evidence)
SIX1
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement exclusion criteria
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • pre auricular pits
  • 608389
  • Deafness, autosomal dominant 23, 605192
  • Brachiootic syndrome 3, 608389
  • Hearing loss panel
  • Deafness,autosomal dominant 23, 605192
  • Non-syndromic hearing loss
  • Branchio-oto-renal syndrome
Tags
Green Green List (high evidence)
SLC26A4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness,autosomal recessive 4,with enlarged vestibular aqueduct,600791
Tags
Green Green List (high evidence)
SOX10
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Vestibular/semicircular canal dysplasia
  • PCWH syndrome
  • Waardenburg syndrome, type 2E, with or without neurologic involvement
  • Waardenburg syndrome, type 4C
Tags
Green Green List (high evidence)
TCOF1
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • 154500
  • Familial hemifacial microsomia with bilateral microtia
  • Treacher Collins syndrome 1, 154500
  • Treacher Collins syndrome which can be highly variable
Tags
Green Green List (high evidence)
TFAP2A
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • Branchiooculofacial syndrome 113620
  • External and middle ear anomalies
  • branchial cleft sinus defects
  • ocular anomalies
Tags
Amber Amber List (moderate evidence)
GDF6
6 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bilateral Microtia
  • Klippel-Feil syndrome 1, autosomal dominant 118100
Tags
Amber Amber List (moderate evidence)
RPS28
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Diamond Blackfan anaemia with mandibulofacial dysostosis, 606164
  • two cases only described to date
  • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164
Tags
Amber Amber List (moderate evidence)
SIX5
6 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • Branchiootorenal syndrome 2
Tags
Red Red List (low evidence)
BMP5
6 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Literature
Phenotypes
  • Bilateral Microtia
  • Congenital microtia
Tags
Red Red List (low evidence)
DACT1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Other
Phenotypes
  • ?Townes-Brocks syndrome 2,617466
  • TBS2
Tags
Red Red List (low evidence)
EVC
6 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bilateral Microtia
  • Weyers acrodental dysostosis
Tags
Red Red List (low evidence)
FOXI1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Enlarged vestibular aqueduct, 600791
Tags
Red Red List (low evidence)
FOXI3
6 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • Expert list
  • Literature
Phenotypes
  • Bilateral Microtia
  • Congenital aural atresia
Tags
Red Red List (low evidence)
LEMD3
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Buschke-Ollendorff syndrome 166700, Osteopoikilosis 166700
  • Melorheostosis with osteopoikilosis 155950
Tags
Red Red List (low evidence)
NKX3-2
6 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Spondylo-megaepiphyseal-metaphyseal dysplasia
Tags
Red Red List (low evidence)
PORCN
2 reviews
1 red
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 Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Focal Dermal Hypoplasia, 305600
Tags
Red Red List (low evidence)
TWSG1
5 reviews
3 red
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Tags
Red Red List (low evidence)
WIF1
5 reviews
3 red
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Tags
No list No list
DWS
4 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Dandy-Walker syndrome, 220200
Tags
  • locus-type-phenotype-only

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