Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
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)
|
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)
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- ?Townes-Brocks syndrome 2,617466
- TBS2
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
5 reviews
3 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
5 reviews
3 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
Phenotypes
Tags
|
No list
No list
|
|
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
|