Trait
Brain imaging abnormality
An anomaly of metabolism or structure of the brain identified by imaging.
Summary
- Also called
- Abnormal brain imaging
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test72 genes linked to Brain imaging abnormality
Changes in these genes cause rare conditions in which Brain imaging abnormality 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 |
|---|---|---|
| CDC42cell division cycle 42 | Very often (80–99%) | In 1 condition |
| DEAF1DEAF1 transcription factor | Very often (80–99%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Very often (80–99%) | In 2 conditions |
| SIN3ASIN3 transcription regulator family member A | Very often (80–99%) | In 1 condition |
| SIN3BSIN3 transcription regulator family member B | Very often (80–99%) | In 1 condition |
| USP7ubiquitin specific peptidase 7 | Very often (80–99%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Often (30–79%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Often (30–79%) | In 1 condition |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Often (30–79%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Often (30–79%) | In 1 condition |
| BTDbiotinidase | Often (30–79%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Often (30–79%) | In 1 condition |
| DNM1Ldynamin 1L | Often (30–79%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Often (30–79%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Often (30–79%) | In 1 condition |
| FOXP1forkhead box P1 | Often (30–79%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| KMT2Clysine methyltransferase 2C | Often (30–79%) | In 1 condition |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Often (30–79%) | In 1 condition |
| NF1neurofibromin 1 | Often (30–79%) | In 2 conditions |
| NIPA1NIPA magnesium transporter 1 | Often (30–79%) | In 1 condition |
| NIPA2NIPA magnesium transporter 2 | Often (30–79%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Often (30–79%) | In 1 condition |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Often (30–79%) | In 1 condition |
| POLR1ARNA polymerase I subunit A | Often (30–79%) | In 1 condition |
| PRNPprion protein (Kanno blood group) | Often (30–79%) | In 1 condition |
| PURApurine rich element binding protein A | Often (30–79%) | In 1 condition |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Often (30–79%) | In 1 condition |
| SATB2SATB homeobox 2 | Often (30–79%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Often (30–79%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Often (30–79%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Often (30–79%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Often (30–79%) | In 1 condition |
| TUBG1tubulin gamma 1 | Often (30–79%) | In 1 condition |
| WDR26WD repeat domain 26 | Often (30–79%) | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sometimes (5–29%) | In 1 condition |
| ATP10AATPase phospholipid transporting 10A (putative) | Sometimes (5–29%) | In 1 condition |
Show 32 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| CHD2chromodomain helicase DNA binding protein 2 | Sometimes (5–29%) | In 1 condition |
| COL25A1collagen type XXV alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Sometimes (5–29%) | In 1 condition |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Sometimes (5–29%) | In 1 condition |
| HMBShydroxymethylbilane synthase | Sometimes (5–29%) | In 1 condition |
| IARS1isoleucyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Sometimes (5–29%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCYL2SCY1 like pseudokinase 2 | Sometimes (5–29%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Sometimes (5–29%) | In 2 conditions |
| SLC6A1solute carrier family 6 member 1 | Sometimes (5–29%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sometimes (5–29%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sometimes (5–29%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Sometimes (5–29%) | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sometimes (5–29%) | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Rarely (1–4%) | In 1 condition |
| ATN1atrophin 1 | Not recorded | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Not recorded | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Not recorded | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Not recorded | In 1 condition |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Not recorded | In 1 condition |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Not recorded | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Not recorded | In 1 condition |
| MICAL1microtubule associated monooxygenase, calponin and LIM domain containing 1 | Not recorded | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Not recorded | In 1 condition |
| PRRT2proline rich transmembrane protein 2 | Not recorded | In 1 condition |
| RELNreelin | Not recorded | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Not recorded | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Not recorded | In 2 conditions |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Not recorded | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | 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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