Klinische FragestellungLebersche kongenitale Amaurosis/EOSRD, Differentialdiagnose

Zusammenfassung

Kurzinformation

LP9753_KI

LP9753

Anzahl Loci

Loci-Typ	Anzahl
Gen	10

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

22,2 kb (Core-/Core-canditate-Gene)
28,3 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

LP9753_DH

Locipanel

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
AIPL1	1155	604392	NM_014336.5	AR, AD
CRB1	4221	604210	NM_201253.3	AR
GDF6	1368	601147	NM_001001557.4	AR
GUCY2D	3312	600179	NM_000180.4	AD, AR
MYO7A	6648	276903	NM_000260.4	AR
RPE65	1602	180069	NM_000329.3	AR
RPGRIP1	3861	605446	NM_020366.4	AR
CNGB3	2430	605080	NM_019098.5
GRM6	2634	604096	NM_000843.4	AD, AR
RHO	1047	180380	NM_000539.3	AD, AR

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_LP9753

Synonyme

Achromatopsia 2 (CNGA3)
Alias: Amaurosis congenita of Leber, LCA
Alias: Amaurosis, Leber congenital
Alias: Congenital amaurosis of retinal origin
Alias: Congenital retinal blindness
Alias: Dysgenesis neuroepithelialis retinae
Alias: Hereditary epithelial dysplasia of retina
Alias: Hereditary retinal aplasia
Alias: Heredoretinopathia congenitalis
Alias: Leber abiotrophy
Alias: Leber congenital tapetoretinal degeneration
Alias: Leber's amaurosis
Alias: Retinal blindness, congenital
Allelic: Bardet-Biedl syndrome 14 (CEP290)
Allelic: Choroidal dystrophy, central areolar 1 (GUCY2D)
Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
Allelic: Cone-rod dystrophy 13 (RPGRIP1)
Allelic: Cranioectodermal dysplasia 4 (WDR19)
Allelic: Joubert syndrome 5 (CEP290)
Allelic: Klippel-Feil syndrome 1, AD (GDF6)
Allelic: Macular dystrophy, patterned, 1 (PRPH2)
Allelic: Macular dystrophy, vitelliform, 3 (PRPH2)
Allelic: Meckel syndrome 4 (CEP290)
Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
Allelic: Microphthalmia, isolated 4 (GDF6)
Allelic: Multiple synostoses syndrome 4 (GDF6)
Allelic: Nephronophthisis 13 (WDR19)
Allelic: Night blindness, congenital stationary, type 1I (GUCY2D)
Allelic: Senior-Loken syndrome 6 (CEP290)
Allelic: Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
Allelic: Snowflake vitreoretinal degeneration (KCNJ13)
Allelic: Spermatogenic failure 72 (WDR19)
Cone-rod dystrophy (AIPL1)
Cone-rod dystrophy 13 (RPGRIP1)
Cone-rod dystrophy 6 (GUCY2D)
Cone-rod retinal dystrophy 2 (CRX)
Hypotaurinemic retinal degeneration + cardiomyopathy (SLC6A6)
Leber congenital amaurosis 1 (GUCY2D)
Leber congenital amaurosis 10 (CEP290)
Leber congenital amaurosis 11 (IMPDH1)
Leber congenital amaurosis 12 (RD3)
Leber congenital amaurosis 13 (RDH12)
Leber congenital amaurosis 14 (LRAT)
Leber congenital amaurosis 15 (TULP1)
Leber congenital amaurosis 16 (KCNJ13)
Leber congenital amaurosis 18 (PRPH2)
Leber congenital amaurosis 19 (USP45)
Leber congenital amaurosis 2 (RPE65)
Leber congenital amaurosis 3 (SPATA7)
Leber congenital amaurosis 4 (AIPL1)
Leber congenital amaurosis 5 (LCA5)
Leber congenital amaurosis 6 (RPGRIP1)
Leber congenital amaurosis 7 (CRX)
Leber congenital amaurosis 8 (CRB1)
Leber congenital amaurosis 9 (NMNAT1)
Leber's amaurosis
Nephronophthisis 15 (CEP164)
Pigmented paravenous chorioretinal atrophy (CRB1)
Retinal dystrophy, early-onset severe (LRAT)
Retinitis pigmentosa 10 (IMPDH1)
Retinitis pigmentosa 12 (CRB1)
Retinitis pigmentosa 14 (TULP1)
Retinitis pigmentosa 20 (RPE65)
Retinitis pigmentosa 7 + digenic form (PRPH2)
Retinitis pigmentosa 7, digenic form (ROM1)
Retinitis pigmentosa 87 with choroidal involvement (RPE65)
Retinitis pigmentosa, juvenile (AIPL1)
Retinitis pigmentosa, juvenile (LRAT)
Retinitis pigmentosa, juvenile, AR (SPATA7)
Retinitis punctata albescens (PRPH2)
Senior-Loken syndrome 8 (WDR19)
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developm. dis., LCA (NMNAT1)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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