Individual #00207418

ID_report 24462369-E1
Reference PubMed: Lim 2014
Remarks 2 generation family, non-consanguineous parents, 2 affected siblings
Gender M
Consanguinity no
Country Australia
Population Lebanese
Age/Death 16y (16 years)
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases LS, deficiency, mitochondrial complex IV (cytochrome C oxidase)
Owner name Sze Chern Lim


Phenotypes

syndrome, Leigh (LS) (LS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000155191 - Familial, autosomal recessive - - - 00y04m - Leigh-like, profound global developmental delay(HP:0001263), hypotonia and seizures (HP:0001250) - Sze Chern Lim

deficiency, mitochondrial complex IV (cytochrome C oxidase) (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000155192 Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts) - - Familial, autosomal recessive - - - - - Sze Chern Lim



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208455 DNA PCRdig - - - 1 Sze Chern Lim



Variants

1 entry on 1 page. Showing entry 1.
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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     
19 Both (homozygous) +/+ g.7694722G>C - - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline yes - MboI+ 0 - Sze Chern Lim PET100 - - - - - 1 NM_001171155.1:c.3G>C - - r.(?) p.Met1? - - - - - - - - - - - - - - - - - - -
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