Reference genomeGRCh38hg38
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Read the genes linked to Diffuse white matter abnormalities, and the rest of your genome, with one test.
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Get my Genome Test38 genes linked to Diffuse white matter abnormalities
Changes in these genes cause rare conditions in which Diffuse white matter abnormalities 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 |
|---|---|---|
| HTRA1HtrA serine peptidase 1 | Always | In 1 condition |
| RIN2Ras and Rab interactor 2 | Always | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| TIMM50translocase of inner mitochondrial membrane 50 | Very often (80–99%) | In 1 condition |
| FKRPfukutin related protein | Often (30–79%) | In 1 condition |
| GLB1galactosidase beta 1 | Often (30–79%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Often (30–79%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Often (30–79%) | In 1 condition |
| POMKprotein O-mannose kinase | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Often (30–79%) | In 1 condition |
| SLC12A6solute carrier family 12 member 6 | Often (30–79%) | In 1 condition |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Often (30–79%) | In 1 condition |
| ARXaristaless related homeobox | Sometimes (5–29%) | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sometimes (5–29%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Sometimes (5–29%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Sometimes (5–29%) | In 1 condition |
| DMXL2Dmx like 2 | Sometimes (5–29%) | In 1 condition |
| GNAO1G protein subunit alpha o1 | Sometimes (5–29%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sometimes (5–29%) | In 2 conditions |
| GRM7glutamate metabotropic receptor 7 | Sometimes (5–29%) | In 1 condition |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Sometimes (5–29%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Sometimes (5–29%) | In 1 condition |
| NEUROD2neuronal differentiation 2 | Sometimes (5–29%) | In 1 condition |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sometimes (5–29%) | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sometimes (5–29%) | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Sometimes (5–29%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sometimes (5–29%) | In 1 condition |
| SIK1salt inducible kinase 1 | Sometimes (5–29%) | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Sometimes (5–29%) | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Sometimes (5–29%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Sometimes (5–29%) | In 1 condition |
| HEPACAMhepatic and glial cell adhesion molecule | Not recorded | In 2 conditions |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | 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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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.
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