Individual #00261207

ID_report Fam2
Reference PubMed: Morgan 2019
Remarks 4-generation family, 16 affected (6F, 10M)
Gender F;M
Consanguinity -
Country -
Population Europe
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 16
Diseases HL
Owner name Johan den Dunnen


Phenotypes

hearing loss (HL) (HL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000199712 see paper; … autosomal dominant non-syndromic hearing loss - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000262312 DNA SEQ;SEQ-NG - WES PLS1 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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     
2 Paternal (confirmed) +?/. g.142402981T>G g.142684139T>G - - PLS1_000002 - PubMed: Morgan 2019 - - Germline yes - - 0 - Johan den Dunnen PLS1 - - - - - - NM_002670.2:c.713T>G - likely pathogenic (dominant) r.(?) p.(Leu238Arg) - - - - - - - - - - - - - - - - - - -
8 Paternal (confirmed) ?/. g.26221330A>G - - - PPP2R2A_000001 considered not associated with phenotype PubMed: Morgan 2019 - - Germline yes - - 0 - Johan den Dunnen PPP2R2A - - - - - - NM_002717.3:c.896A>G - VUS r.(?) p.(Tyr299Cys) - - - - - - - - - - - - - - - - - - -
8 Paternal (confirmed) +?/. g.30703435A>G - NM_001350162.1:c.4258T>C (C420R) - TEX15_000009 considered not associated with phenotype PubMed: Morgan 2019 - - Germline yes - - 0 - Johan den Dunnen TEX15 - - - - - - NM_031271.3:c.3099T>C - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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