Individual #00207392

ID_report V-1
Reference PubMed: Balobaid 2018
Remarks -
Gender F
Consanguinity yes
Country Qatar
Population Middle Eastern
Age at death >02y03m (later than 2 years, 3 months)
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

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Protein     

Owner     
0000155163 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (congenital hip dysplasia), opthalmological abnormalities (megalocornea), Heart abnormalities (Small ASD), Cleft palate, High ALP levels (1212 U/L) - - Familial, autosomal recessive 00y00m01d - - - - Philippe Campeau



Screenings


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Owner     
0000208429 DNA SEQ;SEQ-NG Peripheral Blood WES, Targeted mutation analysis PGAP3 1 Philippe Campeau



Variants

1 entry on 1 page. Showing entry 1.
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AscendingDNA change (genomic) (hg19)     

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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 - - - - - 7 NM_033419.3:c.851A>G - r.(?) p.(His284Arg) - - - - - - - - - - - - - - - - - - -
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