IllnessBaller-Gerold syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Baller-Gerold syndrome comprising 10 curated genes according to the clinical signs

BP7773

Number of genes

8 Accredited laboratory test

Examined sequence length

3,7 kb (Core-/Core-canditate-Genes)
18,7 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
RECQL4	3628	603780	NM_004260.4	AR
ESCO2	1806	609353	NM_001017420.3	AR
FANCA	4368	607139	NM_000135.4	AR
FANCC	1677	613899	NM_000136.3	AR
FANCG	1869	602956	NM_004629.2	AR
SALL4	3162	607343	NM_020436.5	AD
TBX5	1557	601620	NM_000192.3	AD
TWIST1	609	601622	NM_000474.4	AD

Informations about the disease

Clinical Comment

DD: CDAGS s.: Craniosynostosis, clavicular hypoplasia, Anal anomalies, Genitourinary malformations, Skin [porokeratosis] (no gene)

DD: Fetal valproate syndrome, VACTERL (TRAP1, ZIC3)

DD additional Fanconi-anemia genes: BRCA1 BRCA2 BRIP1 ERCC4 FANCB FANCD2 FANCE FANCF FANCI FANCL FANCM FAAP100 PALB2 RAD51 RAD51C MAD2L2 RFWD3 SLX4 UBE2T XRCC2

DD: Thrombocytopenia-Absent Radius, TAR syndrome (del1q21.1)

Synonyms

Baller-Gerold syndrome (RECQL4)
DD add. Fanconi anemia (BRCA1 BRCA2 BRIP1 ERCC4 FANCB FANCD2 FANCE FANCF FANCI FANCL....XRCC2)
DD: Fetal Valproate syndrome, VACTERL (TRAP1, ZIC3)
DD: Thrombocytopenia-Absent Radius, TAR syndrome (del1q21.1)
Allelic: RAPADILINO syndrome (RECQL4)
Allelic: Robinow-Sorauf syndrome (TWIST1)
Allelic: Rothmund-Thomson syndrome, type 2 (RECQL4)
Allelic: Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
Allelic: Sweeney-Cox syndrome (TWIST1)
Craniosynostosis 1 (TWIST1)
DD: CDAGS s.: Craniosynostosis, clavic. hypopl., Anal anom., Genitourinary malform., Skin (no gene)
Duane-radial ray syndrome (SALL4)
Fanconi anemia, complementation group A (FANCA)
Fanconi anemia, complementation group C (FANCC)
Fanconi anemia, complementation group G (FANCG)
Fanconi anemia, complementation groups A-W (FANCB-XRCC2)
Holt-Oram syndrome (TBX5)
IVIC syndrome (SALL4)
Juberg-Hayward syndrome (ESCO2)
Roberts-SC phocomelia syndrome (ESCO2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined