IllnessHypobeta-lipoproteinemia, differential diagnosis

Summary

Short information

A curated panel containing 7 genes for the comprehensive analysis of the genetically caused forms of Hypobeta lipoproteinemia

HP0909

Number of loci

Loci type	Count
Gen	7

Accredited laboratory test

Examined sequence length

18,8 kb (Core-/Core-canditate-Genes)
22,0 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

Diagnostic indications

NGS +

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ANGPTL3	1383	604774	NM_014495.4	AR
APOB	13692	107730	NM_000384.3	AD, AR
APOE	954	107741	NM_000041.4	AD, AR
MTTP	2685	157147	NM_000253.4	AR
ANGPTL8	601	616223	NM_018687.7	AR
PCSK9	2079	607786	NM_174936.4	AD
SAR1B	597	607690	NM_001033503.3	AR

Clinical Comment

illness_ClinicalComment_HP0909_new

Synonyms

Abetalipoproteinemia (MTTP)
Chylomicron retention disease (SAR1B)
Familial dysbetalipoproteinaemia [panelapp] (APOE)
Hypobetalipoproteinemia (APOB)
Hypobetalipoproteinemia [literature] (ANGPTL8)
Hypobetalipoproteinemia [literature] (PCSK9)
Hypobetalipoproteinemia, familial, 2 (ANGPTL3)
Plasma triglyceride level QTL, low (ANGPTL4)
Allelic: Alzheimer disease 2 (APOE)
Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch (APOE)
Allelic: Coronary artery disease, severe, susceptibility to (APOE)
Allelic: Hypercholesterolemia, familial, 2 (APOB)
Allelic: Hypercholesterolemia, familial, 3 (PCSK9)
Allelic: Hyperlipoproteinemia, type III (APOE)
Allelic: Lipoprotein glomerulopathy (APOE)
Allelic: Low density lipoprotein cholesterol level QTL 1 (PCSK9)
Allelic: Macular degeneration, age-related (APOE)
Allelic: Metabolic syndrome, protection against (MTTP)
Allelic: Sea-blue histiocyte disease (APOE)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

No text defined