IllnessHyperferritinemia[-cataract syndrome]/Neuroferrtinopathy, differential diagnosis

Summary

Short information

A comprehensive panel für Hyperferritinemia[-cataract syndrome]/Neuroferrtinopathy, differential diagnosis containing 3 core-/core-candidate genes and altogether 14 curatierted genes

HP9122

Number of genes

6 Accredited laboratory test

Examined sequence length

3,2 kb (Core-/Core-canditate-Genes)
14,5 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CP	3198	117700	NM_000096.4	AR
ATXN2	3462	601517	NM_002973.4	AD
ATXN3	1086	607047	NM_004993.6	AD
NPC1	3837	607623	NM_000271.5	AR
NPC2	456	601015	NM_006432.5	AR
PLA2G6	2421	603604	NM_003560.4	AR

Informations about the disease

Synonyms

Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
Allelic: Hereditary Hyperferritinemia-Cataract syndromc
Allelic: Hyperferritinemia, hereditary, without iron overload
Allelic: L-Ferritin deficiency
Allelic: Lopes-Maciel-Rodan syndrome (HTT)
Allelic: Neuroferritinopathy
Allelic: Parkinson disease 14, AR (PLA2G6)
Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
Allelic: Parkinson disease, susceptibility to (TBP)
Cerebellar ataxia (CP)
Choreoacanthocytosis (VPS13A)
HARP [Hypoprebetalipoproteinemia/Acanthocytosis/Retinitis pigm./Pallidal degener.] syndrome (PANK2)
Hemochromatosis, type 4 (SLC40A1)
Hemosiderosis, systemic, due to aceruloplasminemia (CP)
Huntington disease (HTT)
Hyperferritinemia-cataract syndrome (FTL)
Hypoceruloplasminemia, hereditary (CP)
Infantile neuroaxonal dystrophy 1 (PLA2G6)
Machado-Joseph disease (ATXN3)
McLeod syndrome +/- chronic granulomatous disease (XK)
Neurodegeneration with brain iron accumulation 1 (PANK2)
Neurodegeneration with brain iron accumulation 2B (PLA2G6)
Neurodegeneration with brain iron accumulation 3 (FTL)
Niemann-Pick disease, type C1 (NPC1)
Niemann-Pick disease, type C2 (NPC2)
Niemann-Pick disease, type D (NPC1)
Parkinson disease, juvenile, type 2 (PRKN)
Spinocerebellar ataxia 17 (TBP)
Spinocerebellar ataxia 2 (ATXN2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined