Trait
Notched pupil
Clinical name: Coloboma
A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
Summary
- Also called
- Ocular coloboma, Ocular colobomas
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test73 genes linked to Notched pupil
Changes in these genes cause rare conditions in which Notched pupil 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 1 condition |
| FKRPfukutin related protein | Always | In 3 conditions |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| NHEJ1non-homologous end joining factor 1 | Always | In 1 condition |
| PLVAPplasmalemma vesicle associated protein | Always | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Always | In 2 conditions |
| CAPN15calpain 15 | Very often (80–99%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Very often (80–99%) | In 2 conditions |
| GDF3growth differentiation factor 3 | Very often (80–99%) | In 1 condition |
| GDF6growth differentiation factor 6 | Very often (80–99%) | In 2 conditions |
| OTX2orthodenticle homeobox 2 | Very often (80–99%) | In 1 condition |
| SEMA3Esemaphorin 3E | Very often (80–99%) | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Very often (80–99%) | In 1 condition |
| WDR37WD repeat domain 37 | Very often (80–99%) | In 1 condition |
| ACTG1actin gamma 1 | Often (30–79%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Often (30–79%) | In 1 condition |
| MAB21L2mab-21 like 2 | Often (30–79%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Often (30–79%) | In 1 condition |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Often (30–79%) | In 1 condition |
| PDE6Dphosphodiesterase 6D | Often (30–79%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Often (30–79%) | In 2 conditions |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Often (30–79%) | In 1 condition |
| TBC1D23TBC1 domain family member 23 | Often (30–79%) | In 1 condition |
| TBR1T-box brain transcription factor 1 | Often (30–79%) | In 1 condition |
| TBX22T-box transcription factor 22 | Often (30–79%) | In 2 conditions |
| TMEM138transmembrane protein 138 | Often (30–79%) | In 1 condition |
| TMEM67transmembrane protein 67 | Often (30–79%) | In 1 condition |
| CACHD1cache domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Sometimes (5–29%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sometimes (5–29%) | In 2 conditions |
| KDM6Alysine demethylase 6A | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Sometimes (5–29%) | In 1 condition |
| PAX6paired box 6 | Sometimes (5–29%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Sometimes (5–29%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Sometimes (5–29%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sometimes (5–29%) | In 2 conditions |
Show 33 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| POMKprotein O-mannose kinase | Sometimes (5–29%) | In 2 conditions |
| POMT1protein O-mannosyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| POMT2protein O-mannosyltransferase 2 | Sometimes (5–29%) | In 2 conditions |
| PRMT7protein arginine methyltransferase 7 | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
| SIX6SIX homeobox 6 | Sometimes (5–29%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sometimes (5–29%) | In 1 condition |
| TMEM237transmembrane protein 237 | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Rarely (1–4%) | In 3 conditions |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Rarely (1–4%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Rarely (1–4%) | In 2 conditions |
| HRASHRas proto-oncogene, GTPase | Rarely (1–4%) | In 2 conditions |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Rarely (1–4%) | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Rarely (1–4%) | In 1 condition |
| ALX3ALX homeobox 3 | Not recorded | In 1 condition |
| BMP4bone morphogenetic protein 4 | Not recorded | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Not recorded | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Not recorded | In 1 condition |
| FIBPFGF1 intracellular binding protein | Not recorded | In 1 condition |
| FKTNfukutin | Not recorded | In 1 condition |
| FOXE3forkhead box E3 | Not recorded | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Not recorded | In 1 condition |
| MED13Lmediator complex subunit 13L | Not recorded | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Not recorded | In 1 condition |
| WASHC5WASH complex subunit 5 | Not recorded | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
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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.
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