IllnessWarsaw-Breakage syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Warsaw-Breakage syndrome comprising 1 core gene, 3 core candidate genes and altogether 22 curated genes according to the clinical signs

WP6633

Number of loci

Locus type	Count
Gen	20

Accredited laboratory test

Examined sequence length

14,1 kb (Core-/Core-canditate-Genes)
67,2 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ESCO2	1806	609353	NM_001017420.3	AR
NBN	2265	602667	NM_002485.5	AR
PCNT	10011	605925	NM_006031.6	AR
BRCA2	10257	600185	NM_000059.4	AR
BRIP1	3750	605882	NM_032043.3	AR
ERCC4	2751	133520	NM_005236.3	AR
FANCA	4368	607139	NM_000135.4	AR
FANCB	2580	300515	NM_001018113.3	XL
FANCC	1677	613899	NM_000136.3	AR
FANCE	1611	613976	NM_021922.3	AR
FANCF	1125	613897	NM_022725.4	AR
FANCG	1869	602956	NM_004629.2	AR
FANCI	3987	611360	NM_001113378.2	AR
FANCL	1128	608111	NM_018062.4	AR
FANCM	6147	609644	NM_020937.4	AR
PALB2	3561	610355	NM_024675.4	AR
RAD51	1023	179617	NM_001164269.2	AD
RAD51C	1131	602774	NM_058216.3	AR
SLX4	5505	613278	NM_032444.4	AR
UBE2T	594	610538	NM_014176.4	AR

Informations about the disease

Synonyms

Alias: Warsaw syndrome
Allelic: Aplastic anemia (NBN)
Allelic: Juberg-Hayward syndrome (ESCO2)
Allelic: Leukemia, acute lymphoblastic (NBN)
Allelic: Mirror movements 2 (RAD51)
Allelic: Wilms tumor (BRC2)
Allelic: XFE progeroid syndrome (ERCC4)
Allelic: Xeroderma pigmentosum, group F (ERCC4)
Allelic: Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
Fanconi anemia, complementation group A (FANCA)
Fanconi anemia, complementation group B (FANCB)
Fanconi anemia, complementation group C (FANCC)
Fanconi anemia, complementation group D1 (BRCA2)
Fanconi anemia, complementation group D2 (FANCD2)
Fanconi anemia, complementation group E (FANCE)
Fanconi anemia, complementation group F (FANCF)
Fanconi anemia, complementation group G (FANCG)
Fanconi anemia, complementation group I (FANCI)
Fanconi anemia, complementation group J (BRIP1)
Fanconi anemia, complementation group L (FANCL)
Fanconi anemia, complementation group N (PALB2)
Fanconi anemia, complementation group O (RAD51C)
Fanconi anemia, complementation group P (SLX4)
Fanconi anemia, complementation group Q (ERCC4)
Fanconi anemia, complementation group R (RAD51)
Fanconi anemia, complementation group T (UBE2T)
Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
Nijmegen breakage syndrome (NBN)
Roberts-SC phocomelia syndrome (ESCO2)
Warsaw breakage syndrome (DDX11)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined