Individual #00281816

ID_report PatS5
Reference PubMed: Desai 2017, Journal: Desai 2017
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity -
Country France
Population -
Age at death >30y (later than 30 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000216394 - - Familial, autosomal recessive 30y - moderate mental retardation since childhood, dystonia, psychiatric problems, cerebellar ataxia since about 25 years; MRI-brain cerebellar atrophy; normal metabolic investigations, normal histological analysis of muscle biopsy, fibroblasts decreased steady state levels of a critical CI and CIV subunit, and RNASeq results indicative of decreased expression of a broad range of OXPHOS factors - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282962 DNA arrayCGH;PCR;SEQ - - ATAD3A, ATAD3B 1 Johan den Dunnen



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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

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     

Legacy protein change     

Protein level     
1 Parent #1 +/. - pathogenic (recessive) g.(1383089_?)_(?_1447325)del g.(1447709_?)_(?_1511945)del - - ATAD3A_000049 43 to 61 kb deletion; the other allele has a deletion like in patients S2/S3 but probably also involving a partial gene conversion PubMed: Desai 2017, Journal: Desai 2017 - - Germline - - - 0 - Johan den Dunnen ATAD3A, ATAD3B, ATAD3C - - - - - - NM_018188.3:c.?, NM_031921.4:c.?, NM_001039211.2:c.? - r.? p.? - - - - - - - - - - - - - - - - - - - -
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