Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.160 | Biomarker | disease | HPO | |||||||
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0.160 | CausalMutation | disease | CLINVAR | |||||||
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0.160 | Biomarker | disease | BEFREE | WD repeat domain 45 (WDR45) is one of the disease-causing genes of DD. | 29981852 | 2019 | ||||
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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 | ||||
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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 | ||||
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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 | ||||
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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 | ||||
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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 |