Individual #00300236

ID_report -
Reference -
Remarks -
Gender F
Consanguinity no
Country Ireland
Population -
Age at death 00y00m07d01h
VIP -
Data_av -
Treatment -
Panel size 1
Diseases NLS2
Owner name Fatima Abdelfattah
Database submission license No license selected
Created by Fatima Abdelfattah
Date created 2020-04-24 14:31:21 +02:00 (CEST)
Date last edited 2020-04-26 11:05:04 +02:00 (CEST)


Phenotypes

Neu-Laxova syndrome, tyep 2 (NLS-2) (NLS2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000227538 HP:0001558, HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000347, HP:0007651, HP:0000252, HP:0001371, HP:0006101, HP:0001770, HP:0001838, HP:0001762, HP:0008064,HP:0000951, HP:0002089 - - Familial, autosomal recessive - - - - p.(Ala99Val) Fatima Abdelfattah



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301363 DNA SEQ - - PSAT1 1 Fatima Abdelfattah



Variants

1 entry on 1 page. Showing entry 1.
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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     
9 Maternal (confirmed) +/. - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 we were not able to identify the second allele. We had just the maternal sample and FFPE from the index. Also it was impossible to have the paternal sample. The parents were separated - - - Germline - - - - - Fatima Abdelfattah PSAT1 - - - - - NM_021154.3:c.296C>T - r.(?) p.(Ala99Val) - - - - - - - - - - - - - -
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