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WDR45

From SNPedia
is agene
is mentioned by
ClinVarWDR45
GeneCardsWDR45
DiseasesWDR45
wikipediaWDR45
googleWDR45
gopubmedWDR45
EVSWDR45
HEFalMpWDR45
MyGene2WDR45
23andMeWDR45
# SNPs22
 Max MagnitudeChromosome positionSummary
rs1057519622049,078,038
rs1057521933049,076,425
rs1064793294049,075,440
rs1064794744049,078,055
rs387907328049,074,881
rs387907329049,075,573
rs387907330049,075,866
rs387907331049,076,432
rs387907332049,075,636
rs797046100049,074,856
rs797046101049,076,469
rs797046102049,075,865
rs797046103049,075,361
rs797046105049,075,143
rs864309661049,077,715
rs869312661049,075,135
rs878855326049,075,659
rs886041381049,075,685
rs886041382049,078,077
rs886041605049,075,419
rs886041693049,075,947
rs886041994049,075,602

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