Individual #00334878

ID_report PME27
Reference PubMed: Courage 2021, Journal: Courage 2021
Remarks -
Gender F
Consanguinity no
Country Italy
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases DD
Owner name Carolina Courage
Database submission license No license selected
Created by Carolina Courage
Date created 2021-03-02 09:50:29 +01:00 (CET)
Date last edited 2021-04-14 09:00:51 +02:00 (CEST)


Phenotypes

developmental delay (DD) (DD)   Add phenotype for this disease

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Owner     
0000257419 Onset age 21 of tremor, daily myoclonus from 35 years of age, slowly progressive ataxia from 37 years of age. Single TCS. Normal developmental history, normal cognition. Multiple co-morbidities including bilateral deafness, cataracts, retinal dystrophy, dolicocolon, atonic bladder, hashimoto's thyroiditis, polycystic kidney disease. MRI: cerebellar atrophy. late onset progressive myoclonus epilepsy - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


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Owner     
0000336107 DNA SEQ;SEQ-NG WES - - 2 Carolina Courage



Variants

2 entries on 1 page. Showing entries 1 - 2.
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AscendingDNA change (genomic) (hg19)     

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1 Unknown ?/. ACMG VUS g.26769324G>A - - - DHDDS_000024 ACMG PM2, PP3, PP4; The patient's electroclinical phenotype shares some features with previous reports for this gene, namely ataxia and myoclonus. However onset is considerably later, and there is no history of developmental delay. Whilst functional studies support a damaging effect for this novel variant, but with a maternal DNA sample to confirm de novo status, we remain cautious and report this finding with moderate confidence. PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - Carolina Courage DHDDS - - - - - NM_024887.3:c.283G>A - r.(?) p.(Asp95Asn) - - - - - - - - - - - - - -
19 Parent #1 +?/. ACMG VUS g.10265606T>C - 1619A>G (Tyr540Cys) - DNMT1_000119 ACMG PM1, PM2, PP3 PubMed: Courage 2021, Journal: Courage 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen DNMT1 - - - - - NM_001379.2:c.1571A>G - r.(?) p.(Tyr524Cys) - - - - - - - - - - - - - -
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