Deafness and congenital structural abnormalities (Version 1.22)

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/

Panel Activity

10 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: Other
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
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

57 Entities

57 reviewed, 44 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 list Expert Review Green 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)	FOXI3	7 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Literature Phenotypes Bilateral Microtia Congenital aural atresia Tags
Green Green List (high evidence)	FRAS1	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green 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 list Expert Review Green 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 list Expert Review Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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	1 review	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	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green 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	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Amber 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 list Expert Review Amber 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 list Expert Review Red 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 list Expert Review Red 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)	LEMD3	6 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red 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 list Expert Review Red 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 list Expert Review Red Phenotypes Bilateral Microtia Tags
Red Red List (low evidence)	WIF1	5 reviews 3 red	Unknown	Sources Expert list Expert Review Red 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 curated_removed ensembl_ids_known_missing locus-type-phenotype-only

Major version comments

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

Deafness and congenital structural abnormalities (Version 1.22)

10 reviewers

57 Entities

57 reviewed, 44 green

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