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IllnessMitochondrial diseases, complex V deficiency; differential diagnosis

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Summary

Short information

18 curated single gene sequence analyses according to the clinical suspicion Mitochondrial diseases, complex V deficiency; differential diagnosis

ID
MP3355
Number of loci
Loci typeCount
Gen16
Accredited laboratory test
Examined sequence length
1,8 kb (Core-/Core-canditate-Genes)
10,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
  • Gewebeprobe
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ATP5F1D507NM_001001975.2AR
ATPAF2870NM_145691.4AR
TMEM70324NM_001040613.3AR
ATP5F1A1813NM_001001935.3AR
ATP5F1B1590NM_001686.4n.k.
ATP5F1C897NM_001001973.3n.k.
ATP5F1E156NM_006886.4AR
ATP5MC1411NM_001002027.2n.k.
ATP5MC2474NM_001002031.4n.k.
ATP5ME210NM_007100.4n.k.
ATP5MG312NM_006476.5n.k.
ATP5PB771NM_001688.5n.k.
ATP5PD414NM_001003785.2n.k.
ATP5PF355NM_001003696.2n.k.
ATP5PO642NM_001697.3n.k.
ATPAF11068NM_001042546.2n.k.

Informations about the disease

Clinical Comment

illness_ClinicalComment_MP3355

 

Synonyms
  • Alias: ATP synthase deficiency
  • Mitochondrial complex V (ATP synthase) deficiency (ATP5D)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (ATPAF2)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (ATP5E)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 (ATP5A1)
  • [No OMIM phenotype: ATP5B, ATP5C1, ATP5F1, ATO5G1-3, ATP5H-I, ATP5J-J2, ATP5L-L2, ATP5O, ATPAF1]
Heredity, heredity patterns etc.
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined