Trait
Periventricular heterotopia
A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.
Summary
- Also called
- Periventricular gray matter heterotopia, Periventricular grey matter heterotopia, Periventricular neuronal heterotopia, Subependymal gray matter heterotopia, Subependymal grey matter heterotopia, Subependymal neuronal heterotopia
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test32 genes linked to Periventricular heterotopia
Changes in these genes cause rare conditions in which Periventricular heterotopia 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 |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Always | In 1 condition |
| SNAPINSNAP associated protein | Always | In 1 condition |
| TCP1t-complex 1 | Always | In 1 condition |
| ERMARDER membrane associated RNA degradation | Very often (80–99%) | In 2 conditions |
| ANKRD11ankyrin repeat domain 11 | Often (30–79%) | In 1 condition |
| ARF1ARF GTPase 1 | Often (30–79%) | In 1 condition |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Often (30–79%) | In 2 conditions |
| C2CD3C2 domain containing 3 centriole elongation regulator | Often (30–79%) | In 2 conditions |
| CDH2cadherin 2 | Often (30–79%) | In 1 condition |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Often (30–79%) | In 1 condition |
| FLNAfilamin A | Often (30–79%) | In 1 condition |
| KAT8lysine acetyltransferase 8 | Often (30–79%) | In 1 condition |
| MAP1Bmicrotubule associated protein 1B | Often (30–79%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Often (30–79%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Often (30–79%) | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Often (30–79%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Often (30–79%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Sometimes (5–29%) | In 1 condition |
| MAST1microtubule associated serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| PDHBpyruvate dehydrogenase E1 subunit beta | Sometimes (5–29%) | In 1 condition |
| PLCH1phospholipase C eta 1 | Sometimes (5–29%) | In 1 condition |
| PLK4polo like kinase 4 | Sometimes (5–29%) | In 1 condition |
| RTTNrotatin | Sometimes (5–29%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Rarely (1–4%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Rarely (1–4%) | In 2 conditions |
| CSF1Rcolony stimulating factor 1 receptor | Not recorded | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Not recorded | In 1 condition |
| DHX16DEAH-box helicase 16 | Not recorded | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Not recorded | In 1 condition |
| KAT6Blysine acetyltransferase 6B | 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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