GENE REFERENCE / HGNC:28912

WDR45

WD repeat domain 45

protein-coding geneXp11.23Gene information

What does this gene do?

The WDR45 gene provides instructions for making a protein called WD40 repeat protein interacting with phosphoinositides 4 (WIPI4). WIPI4 is a member of a group of proteins each with a characteristic structure resembling a seven-bladed propeller. The WIPI4 protein is involved in the early stages of a process called autophagy, which helps clear unneeded materials from cells, including excess amounts of an iron storage protein called ferritin. In autophagy, worn-out cell parts (such as organelles, which are specialized structures that perform certain tasks within the cell) and other materials that are no longer needed are isolated in tiny compartments called autophagosomes. The WIPI4 protein helps control (regulate) the production and elongation of autophagosomes to contain the materials. The autophagosomes are then transported to organelles called lysosomes, which act as recycling centers within cells. Lysosomes use digestive enzymes to break down waste substances and recycle worn-out cell components.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-05.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
X-linked complex neurodevelopmental disorderMONDO:0100148 · Evaluated 2019-06-28	X-linked	DefinitiveEpilepsy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 805
Submissions for variants in or overlapping this gene: 1,153
Submissions explicitly reporting this gene: 966
Alleles reported pathogenic / likely pathogenic: 219
VariationIDs with uncertain significance: 167
VariationIDs with conflicting classifications: 31

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about WDR45?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 219 alleles in WDR45 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in WDR45.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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