Individual #00207391

ID_report VI-1
Reference PubMed: Balobaid 2018
Remarks -
Gender F
Consanguinity no
Country Qatar
Population Middle Eastern
Age at death >06y (later than 6 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPMRS4
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau


Phenotypes

hyperphosphatasia, with mental retardation syndrome, type 4 (HPMRS-4, glycosylphosphatidylinositol deficiency, type 10 (GPIBD-10)) (HPMRS4;GPIBD10)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000155162 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Other findings (laryngomalacia), High ALP levels (1123 U/L) - - Familial, autosomal recessive 06y - - - - Philippe Campeau



Screenings


AscendingScreening ID     

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Technique     

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Variants found     

Owner     
0000208428 DNA SEQ;SEQ-NG Peripheral Blood WES PGAP3 1 Philippe Campeau



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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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     

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Legacy protein change     

Protein level     
17 Both (homozygous) +/. - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - Philippe Campeau PGAP3 - - - - - - NM_033419.3:c.851A>G - r.(?) p.(His284Arg) - - - - - - - - - - - - - - - - - - -
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