Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de genetique medicale, |
RCV000735276 | SCV000851996 | likely pathogenic | Charcot-Marie-Tooth disease type 4H | 2018-11-07 | no assertion criteria provided | clinical testing | Pathogenic variants reported in FGD4 gene, homozygote or compound heterozygote, lead to truncated or absent protein causative for a demyelinating neuropathy (Dohrn MF et al, J Neurochem. 2017 Dec;143(5):507-522; Hyun YS et al, Ann Hum Genet. 2015 Nov;79(6):460-9). arrayCGH revealed an homozygote intragenic duplication, inherited from both heterozygote parents, with a probable deleterious effect on gene expression of the two alleles. This CNV gain have been suspected on read depth based analysis of high throughput sequencing data. Moreover, no SNV has been retained as pathogenic. Phenotype is consistent with FGD4-associated neuropathy. |