Trait
Birth defect that causes a hole in the innermost layer at the back of the eye
Clinical name: Chorioretinal coloboma
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Summary
- Also called
- Choroidoretinal coloboma
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Birth defect that causes a hole in the innermost layer at the back of the eye, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test52 genes linked to Birth defect that causes a hole in the innermost layer at the back of the eye
Changes in these genes cause rare conditions in which Birth defect that causes a hole in the innermost layer at the back of the eye is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CC2D2Acoiled-coil and C2 domain containing 2A | Always | In 3 conditions |
| HMGB3high mobility group box 3 | Always | In 1 condition |
| OTX2orthodenticle homeobox 2 | Always | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Always | In 2 conditions |
| CLDN19claudin 19 | Very often (80–99%) | In 1 condition |
| YAP1Yes1 associated transcriptional regulator | Very often (80–99%) | In 2 conditions |
| BCORBCL6 corepressor | Often (30–79%) | In 2 conditions |
| BMP4bone morphogenetic protein 4 | Often (30–79%) | In 1 condition |
| C12orf57chromosome 12 open reading frame 57 | Often (30–79%) | In 1 condition |
| CEP290centrosomal protein 290 | Often (30–79%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Often (30–79%) | In 1 condition |
| FZD5frizzled class receptor 5 | Often (30–79%) | In 1 condition |
| GZF1GDNF inducible zinc finger protein 1 | Often (30–79%) | In 1 condition |
| HHAThedgehog acyltransferase | Often (30–79%) | In 1 condition |
| HMX1H6 family homeobox 1 | Often (30–79%) | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Often (30–79%) | In 2 conditions |
| MAXMYC associated transcriptional regulator X | Often (30–79%) | In 1 condition |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Often (30–79%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Often (30–79%) | In 2 conditions |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Often (30–79%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Often (30–79%) | In 2 conditions |
| RPGRIP1LRPGRIP1 like | Often (30–79%) | In 1 condition |
| SEMA3Esemaphorin 3E | Often (30–79%) | In 1 condition |
| TBX22T-box transcription factor 22 | Often (30–79%) | In 1 condition |
| TMEM138transmembrane protein 138 | Often (30–79%) | In 1 condition |
| TMEM216transmembrane protein 216 | Often (30–79%) | In 2 conditions |
| TMEM231transmembrane protein 231 | Often (30–79%) | In 1 condition |
| TMEM237transmembrane protein 237 | Often (30–79%) | In 1 condition |
| TMEM67transmembrane protein 67 | Often (30–79%) | In 2 conditions |
| ZNF423zinc finger protein 423 | Often (30–79%) | In 1 condition |
| ZNF668zinc finger protein 668 | Often (30–79%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Sometimes (5–29%) | In 1 condition |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Sometimes (5–29%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 1 condition |
| RBP4retinol binding protein 4 | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
Show 12 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SALL1spalt like transcription factor 1 | Sometimes (5–29%) | In 2 conditions |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 2 conditions |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 1 condition |
| SIX6SIX homeobox 6 | Sometimes (5–29%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ACTBactin beta | Not recorded | In 1 condition |
| GDF3growth differentiation factor 3 | Not recorded | In 1 condition |
| PAX6paired box 6 | Not recorded | In 1 condition |
| SHHsonic hedgehog signaling molecule | Not recorded | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks