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 (Guy's and St Thomas' NHS Foundation Trust)

    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

55 Entities

54 reviewed, 40 green

List Entity Reviews Mode of inheritance Details
55 Entitiess
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)
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)
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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