IllnessMikrozephalie mit mandibulofazialer Dysostose, Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for Mandibulofacial dysostosis-microcephaly syndrome comprising altogether 15 curated genes according to the clinical signs

MP7112

Number of loci

Loci type	Count
Gen	15

Accredited laboratory test

Examined sequence length

3,0 kb (Core-/Core-canditate-Genes)
24,2 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
EFTUD2	2919	603892	NM_004247.4	AD
CHD7	8994	608892	NM_017780.4	AD
DHODH	1188	126064	NM_001361.5	AR
POLR1C	1041	610060	NM_203290.4	AR
POLR1D	402	613715	NM_015972.4	AD, AR
RPL11	537	604175	NM_000975.5	AD
RPL35A	333	180468	NM_000996.4	AD
RPL5	894	603634	NM_000969.5	AD
RPS10	498	603632	NM_001014.5	AD
RPS17	408	180472	NM_001021.6	AD
RPS19	438	603474	NM_001022.4	AD
RPS24	393	602412	NM_033022.4	AD
RPS26	348	603701	NM_001029.5	AD
SF3B4	1275	605593	NM_005850.5	AD
TCOF1	4467	606847	NM_001135243.2	AD

Informations about the disease

Synonyms

Alias: Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
Alias: Mandibulofacial dysostosis-microcephaly syndrome (EFTUD2)
Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
Acrofacial dysostosis 1, Nager type (SF3B4)
CHARGE [choanal atresia. malformations of heart, inner ear, retina] syndrome (CHD7)
Craniofacial microsomia (SF3B2)
Diamond-Blackfan anemia 1 (RPS19)
Diamond-Blackfan anemia 10 (RPS26)
Diamond-Blackfan anemia 3 (RPS24)
Diamond-Blackfan anemia 5 (RPL35A)
Diamond-Blackfan anemia 6 (RPL5)
Diamond-Blackfan anemia 7 (RPL11)
Diamond-Blackfan anemia 9 (RPS10)
Diamond-Blackfan anemia 9 (RPS17)
Mandibulofacial Dysostosis, Guion-Almeida Type (EFTUD2)
Miller syndrome [postaxial acrofacial dysostosis] (DHODH)
Treacher Collins syndrome 1 (TCOF1)
Treacher Collins syndrome 2 (POLR1D)
Treacher Collins syndrome 3 (POLR1C)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined