Description
Bilateral microtia eligibility statement:

Bilateral microtia inclusion criteria (29446)
- Microtia affecting both ears (includes unilateral microtia with pre auricular tags or pits affecting the contralateral side)
- Normal microarray
- If pre auricular pits,renal scan and EYA1/SIX1 testing should be done

Bilateral microtia exclusion criteria (29446)
- Maternal diabetes
- Treacher-Collins syndrome and EFTUD2 clinically
- The following syndromes should also be excluded clinically, unless mutation analysis has been performed and is negative: LAMM syndrome (labrytinthine aplasia, microtia and microdontia), BOR syndrome, BOF syndrome, Fraser syndrome, Miller syndrome, Nager syndrome, LADD syndrome, Meier Gorlin syndrome and Townes Brocks syndrome.

Prior genetic testing guidance (29446)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Bilateral microtia prior genetic testing genes (29446)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Where the phenotype is recognisable and is caused by 1-2 principle genes, these should have been tested prior to recruitment

Closing statement (29446)
These requirements will be kept under continual review during the main programme and may be subject to change.

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Maria Bitner-Glindzicz (UCL)

    Group: NHS Genomic Medicine Centre
    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

46 genes

45 reviewed, 26 green

List Gene Reviews Mode of inheritance Details
46 genes
Green Green List (high evidence)
CDC6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bilateral Microtia
  • 613805
Green Green List (high evidence)
CDT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 613804
Green Green List (high evidence)
CHD7
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 214800
Green Green List (high evidence)
DHODH
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 263750
Green Green List (high evidence)
EFTUD2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Eligibility statement exclusion criteria
Phenotypes
  • Bilateral Microtia
  • 610536
Green Green List (high evidence)
EYA1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement exclusion criteria
  • Expert list
Phenotypes
  • Bilateral Microtia
  • pre auricular pits
  • 113650
Green Green List (high evidence)
FGF10
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bilateral Microtia
  • 149730
Green Green List (high evidence)
FGF3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 610706
Green Green List (high evidence)
FGFR2
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • LADD syndrome 149730
Green Green List (high evidence)
FGFR3
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 149730
Green Green List (high evidence)
FRAS1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bilateral Microtia
  • 219000
Green Green List (high evidence)
FREM2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 248450
Green Green List (high evidence)
GNAI3
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 602483
Green Green List (high evidence)
GRIP1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bilateral Microtia
  • 219000
Green Green List (high evidence)
GSC
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 602471
Green Green List (high evidence)
HMX1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 612109
Green Green List (high evidence)
ORC1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 224690
Green Green List (high evidence)
ORC4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bilateral Microtia
  • 613800
Green Green List (high evidence)
ORC6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 613803
Green Green List (high evidence)
PLCB4
2 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 614669
Green Green List (high evidence)
POLR1C
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bilateral Microtia
  • 248390
Green Green List (high evidence)
POLR1D
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 613717
Green Green List (high evidence)
SALL1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 107480
Green Green List (high evidence)
SF3B4
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 154400
Green Green List (high evidence)
SIX1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Eligibility statement exclusion criteria
Phenotypes
  • Bilateral Microtia
  • pre auricular pits
  • 608389
Green Green List (high evidence)
TCOF1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 154500
Red Red List (low evidence)
BMP4
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
BMP5
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
EDNRA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
Red Red List (low evidence)
EIF4A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Red Red List (low evidence)
EVC
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
FOXI3
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
GDF6
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
HOXA2
3 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Microtia, Hearing Impairment, and Cleft Palate
  • 612290
Red Red List (low evidence)
KDM6A
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
KMT2D
4 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
LEMD3
2 reviews
2 red
Not set
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
MCM5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Meier-Gorlin syndrome 8 617564
Red Red List (low evidence)
NKX3-2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
OTX2
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
POLR1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • 3 afftected individuals with Cincinnati type mandibulofacial dysostosis, 616462. 1 de novo, i inherited from an unaffected parent and 1 with parental status unknown.
Red Red List (low evidence)
RPS28
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Diamond Blackfan anaemia with mandibulofacial dysostosis, 606164
  • two cases only described to date
Red Red List (low evidence)
SIX5
3 reviews
1 green 2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
TFAP2A
3 reviews
2 green 1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
TWSG1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
Red Red List (low evidence)
WIF1
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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