Individual #00104566

ID_report 28585349-FamPat1
Reference PubMed: Poirier 2017, Journal: Poirier 2017
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender M
Consanguinity no
Country France
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Karine Poirier
Database submission license No license selected
Created by Karine Poirier


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000082483 intellectual disability - Isolated (sporadic) born at term after, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay, hypotonia, lingual protrusion; 11m-crawling, 24m-walking; 6y-intellectual disability, severe attention and learning difficulties, autistic traits preferring to be alone; 7y-started to speak few words; 10y facial dysmorphy with mandibular prognathism, open mouth fixed O position, protruded tongue, bushy eyebrows, flat philtrum; MRI brain and ECG normal; metabolic investigations normal except rISED serum creatine phosphokinase (341IU) - - - - - Karine Poirier



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105038 DNA;RNA RT-PCR;SEQ;SEQ-NG - - BMP15, CSNK2B, GPR144, HEPH, PLXNA3 8 Karine Poirier



Variants

8 entries on 1 page. Showing entries 1 - 8.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Maternal (confirmed) ?/. - VUS g.219878651T>A g.219013929T>A - - chr2_000977 - - - - Germline - - - - - Karine Poirier - - - - - - - - - - - - - - - - - - - - - - -
2 Paternal (confirmed) ?/. - VUS g.219892666G>T g.219027944G>T - - chr2_000976 - - - - Germline - - - - - Karine Poirier - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown +?/. - likely pathogenic g.31636951T>C g.31669174T>C - - CSNK2B_000002 - PubMed: Poirier 2017, Journal: Poirier 2017 - - De novo - - - - - Karine Poirier CSNK2B - - - - 5i NM_001320.5:c.367+2T>C - r.[292_367del,367_368ins[gc;367+3_368-1] p.? - - - - - - - - - - - - - -
9 Paternal (confirmed) ?/. - VUS g.127215484C>T g.124453205C>T - - GPR144_000002 - - - - Germline - - - - - Karine Poirier GPR144 - - - - - NM_001161808.1:c.508C>T - r.(?) p.(Pro170Ser) - - - - - - - - - - - - - -
9 Maternal (confirmed) ?/. - VUS g.127228633G>A g.124466354G>A - - GPR144_000001 - - - - Germline - - - - - Karine Poirier GPR144 - - - - - NM_001161808.1:c.1888G>A - r.(?) p.(Ala630Thr) - - - - - - - - - - - - - -
X Maternal (confirmed) ?/. - VUS g.50653985C>T g.50910985C>T - - BMP15_000001 - - - - Somatic - - - - - Karine Poirier BMP15 - - - - - NM_005448.2:c.202C>T - r.(?) p.(Arg68Trp) - - - - - - - - - - - - - -
X Maternal (confirmed) ?/. - VUS g.65423236G>A g.66203394G>A - - HEPH_000026 - - - - Germline - - - - - Karine Poirier HEPH - - - - - NM_138737.3:c.2270G>A - r.(?) p.(Ser757Asn) - - - - - - - - - - - - - -
X Maternal (confirmed) ?/. - VUS g.153696236G>A g.154467893G>A - - PLXNA3_000001 - - - - Germline - - - - - Karine Poirier PLXNA3 - - - - - NM_017514.3:c.3712G>A - r.(?) p.(Val1238Met) - - - - - - - - - - - - - -
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