Trait
Light eye color
Clinical name: Iris hypopigmentation
An abnormal reduction in the amount of pigmentation of the iris.
Summary
- Also called
- Light eye colour, Reduced iris pigmentation
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test34 genes linked to Light eye color
Changes in these genes cause rare conditions in which Light eye color 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 |
|---|---|---|
| SOX10SRY-box transcription factor 10 | Always | In 1 condition |
| ADGRV1adhesion G protein-coupled receptor V1 | Very often (80–99%) | In 1 condition |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Very often (80–99%) | In 1 condition |
| ARSGarylsulfatase G | Very often (80–99%) | In 1 condition |
| CEP78centrosomal protein 78 | Very often (80–99%) | In 1 condition |
| CLRN1clarin 1 | Very often (80–99%) | In 1 condition |
| GPR143G protein-coupled receptor 143 | Very often (80–99%) | In 1 condition |
| HARS1histidyl-tRNA synthetase 1 | Very often (80–99%) | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Very often (80–99%) | In 1 condition |
| MYO5Amyosin VA | Very often (80–99%) | In 2 conditions |
| MYO7Amyosin VIIA | Very often (80–99%) | In 1 condition |
| PDZD7PDZ domain containing 7 | Very often (80–99%) | In 1 condition |
| PITX2paired like homeodomain 2 | Very often (80–99%) | In 1 condition |
| TYRtyrosinase | Very often (80–99%) | In 2 conditions |
| USH2Ausherin | Very often (80–99%) | In 1 condition |
| WHRNwhirlin | Very often (80–99%) | In 1 condition |
| XYLT2xylosyltransferase 2 | Very often (80–99%) | In 1 condition |
| ATP10AATPase phospholipid transporting 10A (putative) | Often (30–79%) | In 1 condition |
| BEST1bestrophin 1 | Often (30–79%) | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Often (30–79%) | In 1 condition |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Often (30–79%) | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Often (30–79%) | In 1 condition |
| LYSTlysosomal trafficking regulator | Often (30–79%) | In 2 conditions |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 4 conditions |
| MC1Rmelanocortin 1 receptor | Often (30–79%) | In 1 condition |
| NDNnecdin, MAGE family member | Often (30–79%) | In 4 conditions |
| OCA2OCA2 melanosomal transmembrane protein | Often (30–79%) | In 5 conditions |
| PRPH2peripherin 2 | Often (30–79%) | In 1 condition |
| SLC45A2solute carrier family 45 member 2 | Often (30–79%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Often (30–79%) | In 6 conditions |
| TYRP1tyrosinase related protein 1 | Often (30–79%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Often (30–79%) | In 4 conditions |
| MLPHmelanophilin | Sometimes (5–29%) | In 1 condition |
| RAB27ARAB27A, member RAS oncogene family | Sometimes (5–29%) | 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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