Description
Relevant diseases:

- Anophthalmia/microphthalmia


Anophthalmia (clinical absence of the eye) and severe microphthalmia (congenital reduction in the overall size of the globe) represent clinically significant inborn errors of early development.

Anophthalmia inclusion criteria (29638)
- Unilateral or bilateral anophthalmia or microphthalmia

Anophthalmia exclusion criteria (29638)

Prior genetic testing guidance (29638)
- 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.

Anophthalmia prior genetic testing genes (29638)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Genome-wide copy number variation (e.g. aCGH, SNP array or other genomic microarray)
 - SOX2, OTX2 (severe, bilateral cases)

Closing statement (29638)
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

  • David FitzPatrick (University of Edinburgh)

    Group: GeCIP domain
    Workplace: Research lab

  • Damian Smedley (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Owen Siggs (Flinders University)

    Group: Other
    Workplace: Research lab

56 Entities

56 reviewed, 31 green

List Entity Reviews Mode of inheritance Details
56 Entitiess
Green Green List (high evidence)
ALDH1A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, isolated 8, 615113
Tags
Green Green List (high evidence)
BCOR
2 reviews
1 green
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
Phenotypes
  • Microphthalmia, syndromic 2, 300166
Tags
Green Green List (high evidence)
BMP4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • BMP4-Related Syndromic Microphthalmia
  • Microphthalmia, syndromic 6, 607932Orofacial cleft 11, 600625
Tags
Green Green List (high evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
FOXC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
FOXE3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
FRAS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
FREM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
FREM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
GRIP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
HCCS
3 reviews
1 green
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
Phenotypes
  • Microphthalmia, syndromic 7, 309801
Tags
Green Green List (high evidence)
MAB21L2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 14, 615877
Tags
Green Green List (high evidence)
MFRP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, isolated 5, 611040
  • Isolated Microphthalmia
Tags
Green Green List (high evidence)
OTX2
2 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
  • OTX2-Related Syndromic Microphthalmia
  • Microphthalmia, syndromic 5, 610125
  • severe, bilateral cases
Tags
Green Green List (high evidence)
PAX6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Anophthalmia
Tags
Green Green List (high evidence)
PITX2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
PRSS56
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, isolated 6, 613517
Tags
Green Green List (high evidence)
RAB18
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Warburg Micro Syndrome
  • Warburg micro syndrome 3, 614222
Tags
Green Green List (high evidence)
RAB3GAP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Warburg Micro Syndrome
  • Warburg micro syndrome 1, 600118
Tags
Green Green List (high evidence)
RAB3GAP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Warburg Micro Syndrome
  • Martsolf syndrome, 212720Warburg micro syndrome 2, 614225
Tags
Green Green List (high evidence)
RARB
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 12, 615524
Tags
Green Green List (high evidence)
RAX
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Anophthalmia/Microphthalmia
Tags
Green Green List (high evidence)
SHH
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160
Tags
Green Green List (high evidence)
SIX6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anophthalmia/Microphthalmia
  • Microphthalmia with cataract 2, 212550
Tags
Green Green List (high evidence)
SMO
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Curry-Jones syndrome, somatic mosaic 601707
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
SMOC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia with limb anomalies, 206920
Tags
Green Green List (high evidence)
SOX2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microphthalmia, syndromic 3, 206900Optic nerve hypoplasia and abnormalities of the central nervous system, 206900
  • severe, bilateral cases
Tags
Green Green List (high evidence)
STRA6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Syndromic Microphthalmia, Recessive
  • Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186
Tags
Green Green List (high evidence)
TBC1D20
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Warburg micro syndrome 4, 615663
Tags
Green Green List (high evidence)
TMEM98
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nanophthalmos 4, 615972
  • NNO4
Tags
Green Green List (high evidence)
VSX2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia with coloboma 3
Tags
Amber Amber List (moderate evidence)
TUBGCP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Tags
  • watchlist
Red Red List (low evidence)
ABCB6
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, isolated, with coloboma 7, 614497
Tags
Red Red List (low evidence)
B3GLCT
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
BMPR1A
1 review
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
CYP1B1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
DDB1
1 review
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
DDB2
1 review
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
ERCC1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebrooculofacioskeletal syndrome 4, 610758
Tags
Red Red List (low evidence)
ERCC2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756
Tags
Red Red List (low evidence)
ERCC3
1 review
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
ERCC4
1 review
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
ERCC5
1 review
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
ERCC6
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebrooculofacioskeletal Syndrome
  • Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980
Tags
Red Red List (low evidence)
ERCC8
1 review
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
GDF3
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome 3, autosomal dominant, 613702
Tags
Red Red List (low evidence)
GDF6
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Klippel-Feil syndrome 1, autosomal dominant, 118100
Tags
Red Red List (low evidence)
GTF2H5
1 review
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
HDAC6
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863
Tags
Red Red List (low evidence)
MPLKIP
2 reviews
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
PITX3
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
POLH
1 review
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
TENM3
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia isolated with coloboma 9
Tags
Red Red List (low evidence)
VAX1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 11, 614402
Tags
Red Red List (low evidence)
XPA
1 review
1 red
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
XPC
1 review
1 red
Not set
Sources
  • UKGTN
Tags

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