Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test23 genes linked to Absent thumbnail
Changes in these genes cause rare conditions in which Absent thumbnail 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 |
|---|---|---|
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Always | In 2 conditions |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Often (30–79%) | In 1 condition |
| ARXaristaless related homeobox | Rarely (1–4%) | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Rarely (1–4%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Rarely (1–4%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Rarely (1–4%) | In 1 condition |
| DMXL2Dmx like 2 | Rarely (1–4%) | In 1 condition |
| GNAO1G protein subunit alpha o1 | Rarely (1–4%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Rarely (1–4%) | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Rarely (1–4%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Rarely (1–4%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Rarely (1–4%) | In 1 condition |
| NEUROD2neuronal differentiation 2 | Rarely (1–4%) | In 1 condition |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Rarely (1–4%) | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Rarely (1–4%) | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Rarely (1–4%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Rarely (1–4%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Rarely (1–4%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Rarely (1–4%) | In 1 condition |
| SIK1salt inducible kinase 1 | Rarely (1–4%) | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Rarely (1–4%) | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Rarely (1–4%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Rarely (1–4%) | 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.
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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