WDR45
| is a | gene |
| is | mentioned by |
| ClinVar | WDR45 |
| GeneCards | WDR45 |
| Diseases | WDR45 |
| wikipedia | WDR45 |
| WDR45 | |
| gopubmed | WDR45 |
| EVS | WDR45 |
| HEFalMp | WDR45 |
| MyGene2 | WDR45 |
| 23andMe | WDR45 |
| # SNPs | 22 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057519622 | 0 | 49,078,038 | |
| rs1057521933 | 0 | 49,076,425 | |
| rs1064793294 | 0 | 49,075,440 | |
| rs1064794744 | 0 | 49,078,055 | |
| rs387907328 | 0 | 49,074,881 | |
| rs387907329 | 0 | 49,075,573 | |
| rs387907330 | 0 | 49,075,866 | |
| rs387907331 | 0 | 49,076,432 | |
| rs387907332 | 0 | 49,075,636 | |
| rs797046100 | 0 | 49,074,856 | |
| rs797046101 | 0 | 49,076,469 | |
| rs797046102 | 0 | 49,075,865 | |
| rs797046103 | 0 | 49,075,361 | |
| rs797046105 | 0 | 49,075,143 | |
| rs864309661 | 0 | 49,077,715 | |
| rs869312661 | 0 | 49,075,135 | |
| rs878855326 | 0 | 49,075,659 | |
| rs886041381 | 0 | 49,075,685 | |
| rs886041382 | 0 | 49,078,077 | |
| rs886041605 | 0 | 49,075,419 | |
| rs886041693 | 0 | 49,075,947 | |
| rs886041994 | 0 | 49,075,602 |
The WDR45 gene provides instructions for making a protein called WD40 repeat protein interacting with phosphoinositides 4 (WIPI4). Caused by mutations in the WDR45 gene, beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Affected individuals develop a buildup of iron in the brain that can be seen with medical imaging. For this reason, BPAN is classified as a type of disorder called neurodegeneration with brain iron accumulation (NBIA), although the iron accumulation may not occur until late in the disease. Many people with BPAN have recurrent seizures (epilepsy) beginning in infancy or early childhood.GHR
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.GHR
Almost all cases of BPAN result from new mutations in the gene and occur in people with no history of the disorder in their family. Rarely, an affected person inherits the mutation from a mildly affected mother. Among reported cases, males with BPAN and most females with BPAN have not had children.GHR
