Individual #00452750

ID_report 290869
Reference -
Remarks -
Gender F
Consanguinity yes
Country (Morocco)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases NEDHCAS
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-07-22 15:41:08 +02:00 (CEST)
Date last edited 2024-07-24 10:14:47 +02:00 (CEST)


Phenotypes

neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS)   Add phenotype for this disease

AscendingPhenotype ID     

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Owner     
0000341357 - NEDHCAS Triggered by infection, Episodic ataxia, Intellectual disability, Delayed fine motor development; parents consanguineous (cousin and cousin), son of the father's cousin with similar symptoms (also ataxia esp. in the context of infections) Familial, autosomal recessive 01y - - - Andreas Laner



Screenings


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Owner     
0000454352 DNA SEQ-NG-I Blood - PIGK 1 Andreas Laner



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Legacy protein change     

Protein level     
1 Both (homozygous) +?/. ACMG likely pathogenic (recessive) g.77632412T>G g.77166727T>G - - PIGK_000005 ACMG PM3_STR, PP3_MOD, PM2_SUP, PP1; PMID:32220290 - - - Germline yes - - - - Andreas Laner PIGK - - - - - NM_005482.2:c.479A>C - r.(?) p.(Tyr160Ser) - - - - - - - - - - - - - -
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