Individual #00184772

ID_report -
Reference PubMed: Viau 2013
Remarks Patient no 5 in Viau et al, 2013
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CCDS2
Owner name Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons


Phenotypes

deficiency, cerebral creatine, syndrome, type 2 (CCDS2, guanidinoacetate methyltransferase deficiency (GAMTD)) (CCDS2;GAMTD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Age/Examination     

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Phenotype/Onset     

Protein     

Owner     
0000144902 - GAMT deficiency CCDS-2 Familial, autosomal recessive - - - - - Gajja Salomons



Screenings


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Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000185739 DNA SEQ - - GAMT 2 Gajja Salomons



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Exon_old     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Legacy protein change     

Protein level     
19 Parent #2 +/+ - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - 0 - Gajja Salomons GAMT - - - - 2 NM_000156.5:c.299_311dup - r.(?) p.(Arg105Glyfs*26) - - - - - - - - - - - - - - - - - - -
19 Parent #1 +/+ - pathogenic (recessive) g.1399886A>T g.1399887A>T - - GAMT_012048 - PubMed: Comeaux 2013 - - Germline - - - 0 - Gajja Salomons GAMT - - - - 2 NM_000156.5:c.233T>A - r.(?) p.(Val78Glu) - - - - - - - - - - - - - - - - - - -
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