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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessSERAC1 deficiency, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for SERAC1 deficiency containing 1 core gene and altogether 17 curated genes according to the clinical signs

ID
SP9947
Number of genes
16 Accredited laboratory test
Examined sequence length
2,0 kb (Core-/Core-canditate-Genes)
17,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-Blut (7,5-9 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SERAC11965NM_032861.4AR
ACTB1128NM_001101.5AD
AGK1269NM_018238.4AR
ATAD3A1761NM_001170535.3AD, AR
AUH1020NM_001698.3AR
BCAP31741NM_001139441.1XLR
CLPB2034NM_001258392.3AR, AD
DNAJC19351NM_145261.4AR
FITM2791NM_001080472.4AR
HTRA21377NM_013247.5AR
OPA3540NM_025136.4AR
SUCLA21392NM_003850.3AR
TAFAZZIN879NM_000116.5XLR
TIMM501062NM_001001563.5AR
TIMM8A294NM_004085.4XLR
TMEM70324NM_001040613.3AR

Informations about the disease

Synonyms
  • MEGD(H)EL s: 3-methylglutaconic aciduria, deafness-dystonia, (hepatop.), encephalop., Leigh-like s.
  • MEGDEL Syndrom
  • SERAC1 deficiency: MRGD(H)EL syndrome, spastic paraplegia, dystonia
  • 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
  • 3-methylglutaconic aciduria, type I (AUH)
  • 3-methylglutaconic aciduria, type III (OPA3)
  • 3-methylglutaconic aciduria, type IX (TIMM50)
  • 3-methylglutaconic aciduria, type V (DNAJC19)
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement + neutropenia (CLPB)
  • 3-methylglutaconic aciduria, type VIII (HTRA2)
  • Baraitser-Winter syndrome (ACTB)
  • Barth syndrome, 3-methylglutaconic aciduria, type II (TAFAZZIN)
  • Combined oxidative phosphorylation deficiency 37 (MICOS13 syn. C19orf70)
  • Deafness, dystonia, and cerebral hypomyelination (BCAP31)
  • Dystonia, juvenile-onset (ACTB)
  • Harel-Yoon syndrome (ATAD3A)
  • Mitochondrial DNA depletion syndrome 5, encephalomyopathic +/- methylmalonic aciduria (SUCLA2)
  • Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
  • Mohr-Tranebjaerg syndrome (TIMM8A)
  • Pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome, neonatal lethal (ATAD3A)
  • Sengers syndrome (AGK)
  • Siddiqi syndrome (FITM2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined