Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
0.160 GeneticVariation disease BEFREE We report the clinical neurophysiological and neuro-imaging findings of a new subtype of BPAN in a 6 year-old female patient, who was identified to have a large de novo WDR45 deletion who presented in the first year of life with early onset global developmental delay, severe cognitive impairment, generalized hypotonia and a corticosteroid responsive epileptic encephalopathy. 31536831 2020
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
0.160 Biomarker disease BEFREE WD repeat domain 45 (WDR45) is one of the disease-causing genes of DD. 29981852 2019
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
0.160 GeneticVariation disease BEFREE This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to provide sufficient evidence for pathogenicity of a relatively intronic variant in WDR45, and in so doing, find a genetic diagnosis for a 6-year-old patient with developmental delay and seizures, a diagnosis which may otherwise have only been found once the characteristic MRI patterns of the disease became more obvious in young adulthood. 29681108 2018
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
0.160 GeneticVariation disease BEFREE Mutations in WDR45 should be considered as a cause for epileptic encephalopathies in males with profound developmental delay and brain atrophy. 28711740 2017
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
0.160 GeneticVariation disease BEFREE Further, clinical symptoms associated with WDR45 mutations ranged from early-onset epileptic encephalopathy in a male patient with a deletion of WDR45 to only mild cognitive delay in a female patient, suggesting that analysis of this gene should be considered more often in patients with developmental delay, regardless of severity. 26790960 2016
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
0.160 GeneticVariation disease BEFREE Whole-exome sequencing revealed a de novo, heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45, previously reported to be disease-causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. 26609730 2015
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
0.160 Biomarker disease HPO
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
0.160 CausalMutation disease CLINVAR