Individual #00025928

ID_report -
Reference PubMed: Thompson 2012
Remarks Index case with hyperphosphatasia with mental retardation 1.
Gender F
Consanguinity no
Country United States
Population Caucasian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPMRS-1
Owner name Philippe Campeau


Phenotypes

hyperphosphatasia, with mental retardation syndrome, type 1 (HPMRS-1, glycosylphosphatidylinositol deficiency, type 2 (GPIBD-2)) (HPMRS-1;GPIBD-2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000021998 Developmental delay was noted by the age of 16 months. Frequent generalized tonic-clonic seizures commenced at age 4 years. She had delayed psychomotor development and hypotonia, hypertelorism, a broad nasal bridge and tented upper lip. Her hands and feet were normal with no evidence of clinodactyly or brachytelephalangy. - - Familial, autosomal recessive - - - - - Philippe Campeau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025930 DNA SEQ - - PIGV 1 Philippe Campeau



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Unknown +/. g.27124222C>T g.26797731C>T - - PIGV_000007 This mutation results in a substitution in the mannose transferase domain of the enzyme. Polyphen-2 modeling for pathogenicity of the p.Leu457Phe variant suggested that it would probably be damaging to protein structure and function. It was not detected in the 4,000 exomes available through the University of Washington genome centre. PubMed: Thompson 2012 - - Germline yes - - 0 - Philippe Campeau PIGV - - - - - - NM_017837.3:c.1369C>T - - r.(?) p.(Leu457Phe) - - - - - - - - - - - - - - - - - - -
Legend