IllnessMIRAGE-Syndrom, Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for MIRAGE syndrome comprising 5 curated genes according to the clinical signs

MP7114

Number of loci

Loci type	Count
Gen	6

Accredited laboratory test

Examined sequence length

9,6 kb (Core-/Core-canditate-Genes)
20,5 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

Diagnostic indications

NGS +

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SAMD9	4770	610456	NM_001193307.2	AD
SAMD9L	4756	611170	NM_152703.5	AD
AAAS	1641	605378	NM_015665.6	AR
CDKN1C	951	600856	NM_000076.2	AD
GATA2	1443	137295	NM_032638.5	AD
POLE	6861	174762	NM_006231.4	AD, AR

Synonyms

MIRAGE: Myelodysplasia/Infection/growth Restriction/Adrenal hypoplasia/Genital sympt./Enteropathy
Allelic: Colorectal cancer, susceptibility to, 12 (POLE)
Allelic: Leukemia, acute myeloid, susceptibility to (GATA2)
Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
Allelic: Myelodysplastic syndrome, susceptibility to GATA2)
Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
Achalasia-addisonianism-alacrimia syndrome (AAAS)
Ataxia-pancytopenia syndrome (SAMD9L)
Beckwith-Wiedemann syndrome (CDKN1C)
Emberger syndrome (GATA2)
FILS syndrome [Facial dysm., Immunodeficiency, Livedo, Short stature syndrome] (POLE)
IMAGE syndrome (CDKN1C)
IMAGE-I syndrome (POLE)
Immunodeficiency 21 (GATA2)
MIRAGE syndrome (SAMD9)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

No text defined