Klinische FragestellungSERAC1-Defizienz, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für SERAC1-Defizienz mit 1 "core"-Gen und zusammen genommen 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose

SP9947

Anzahl Loci

Locus-Typ	Anzahl
Gen	16

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

2,0 kb (Core-/Core-canditate-Gene)
17,0 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (7,5-9 ml)

Diagnostische Hinweise

NGS +

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
SERAC1	1965	614725	NM_032861.4	AR
ACTB	1128	102630	NM_001101.5	AD
AGK	1269	610345	NM_018238.4	AR
ATAD3A	1761	612316	NM_001170535.3	AD, AR
AUH	1020	600529	NM_001698.3	AR
BCAP31	741	300398	NM_001139441.1	XLR
CLPB	2034	616254	NM_001258392.3	AR, AD
DNAJC19	351	608977	NM_145261.4	AR
FITM2	791	612029	NM_001080472.4	AR
HTRA2	1377	606441	NM_013247.5	AR
OPA3	540	606580	NM_025136.4	AR
SUCLA2	1392	603921	NM_003850.3	AR
TAFAZZIN	879	300394	NM_000116.5	XLR
TIMM50	1062	607381	NM_001001563.5	AR
TIMM8A	294	300356	NM_004085.4	XLR
TMEM70	324	612418	NM_001040613.3	AR

Infos zur Erkrankung

Synonyme

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)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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