Klinische FragestellungHuppke-Brendel-Syndrom; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Huppke-Brendel-Syndrom mit 10 kuratierten Genen gemäß klinischer Verdachtsdiagnose

HP1772

Anzahl Gene

10 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

1,7 kb (Core-/Core-canditate-Gene)
17,7 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

Diagnostische Hinweise

NGS +

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
SLC33A1	1650	603690	NM_004733.4	AR
AP1S1	477	603531	NM_001283.5	AR
ATP7A	4503	300011	NM_000052.7	XLR
ATP7B	4398	606882	NM_000053.4	AR
CCDC115	645	613734	NM_032357.4	AR
HYCC1	1566	610531	NM_032581.4	AR
RMND1	1350	614917	NM_017909.4	AR
SUCLA2	1392	603921	NM_003850.3	AR
SUCLG1	1041	611224	NM_003849.4	AR
TMEM199	633	616815	NM_152464.3	AR

Synonyme

Alias: Congenital cataract-hearing loss-severe developmental delay syndrome
Allelic: Occipital horn syndrome (ATP7A)
Allelic: Spastic paraplegia 42, AD (SLC33A1)
Allelic: Spinal muscular atrophy, distal, XL 3 (ATP7A)
Combined oxidative phosphorylation deficiency 11 (RMND1)
Congenital cataracts, hearing loss + neurodegeneration (SLC33A1)
Congenital disorder of glycosylation, type IIo (CCDC119)
Congenital disorder of glycosylation, type IIp (TMEM199)
Leukodystrophy, hypomyelinating, 5 (FAM126A)
MEDNIK syndrome (AP1S1)
Menkes disease (ATP7A)
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma (AP1S1)
Mitochondrial DNA depletion s. 5 [encephalomyopathic with/-out methylmalonic aciduria] (SUCLA2)
Mitochondrial DNA depletion s. 9 [encephalomyopathic type with methylmalonic aciduria] (SUCLG1)
Wilson disease (ATP7B)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

ICD10 Code

Q87.-

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