IllnessRitscher-Schinzel syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Ritscher-Schinzel syndrome containing 2 core genes and altogether 30 curated genes according to the clinical signs

RP5559

Number of genes

27 Accredited laboratory test

Examined sequence length

5,4 kb (Core-/Core-canditate-Genes)
101,9 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
CCDC22	1884	300859	NM_014008.5	XLR
WASHC5	3480	610657	NM_014846.4	AR
AHI1	3591	608894	NM_017651.5	AR
ALX1	981	601527	NM_006982.3	AR
ALX3	1032	606014	NM_006492.3	AR
ALX4	1236	605420	NM_021926.4	AD, AR
CC2D2A	4863	612013	NM_001080522.2	AR
CEP290	7440	610142	NM_025114.4	AR
CHD7	8994	608892	NM_017780.4	AD
CSPP1	3666	611654	NM_024790.6	AR
DPH1	1332	603527	NM_001383.6	AR
EVC	2979	604831	NM_153717.3	AD, AR
EVC2	3927	607261	NM_147127.5	AD, AR
HDAC8	1134	300269	NM_018486.3	XL
KDM6A	4206	300128	NM_021140.4	XL
KMT2D	16614	602113	NM_003482.4	AD
MKS1	1680	609883	NM_017777.4	AR
NIPBL	8415	608667	NM_133433.4	AD
NPHP1	2202	607100	NM_000272.5	AR
RAD21	1896	606462	NM_006265.3	AD, AR
RPGRIP1L	3948	610937	NM_015272.5	AR
SMC1A	3702	300040	NM_006306.4	XL
SMC3	3654	606062	NM_005445.4	AD
TCTN2	2094	613846	NM_024809.5	AR
TMEM216	438	613277	NM_001173990.3	AR
TMEM67	2988	609884	NM_153704.6	AR
VPS35L	3462	618981	NM_020314.7	AR

Informations about the disease

Synonyms

Alias: 3C-Syndrom - Craniofacial features, Cerebellar defects, Cardiovascular malformations
Alias: Dysplasie, kardiale kraniozerebelläre
Allelic: Craniosynostosis 5, susceptibility to (ALX4)
Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
Allelic: Leber congenital amaurosis 10 (CEP290)
Allelic: Nephronophthisis 11 (TMEM67)
Allelic: Parietal foramina 2 (ALX4)
Allelic: Spastic paraplegia 8, AD (WASHC5)
Bardet-Biedl syndrome 13 (MKS1)
Bardet-Biedl syndrome 14 (CEP290)
Bardet-Biedl syndrome 14, modifier of (TMEM67)
CHARGE syndrome (CHD7)
COACH syndrome 1 (TMEM67)
COACH syndrome 2 (CC2D2A)
COACH syndrome 3 (RPGRIP1L)
Cornelia de Lange syndrome 1 (NNIPBL)
Cornelia de Lange syndrome 2 (SMC1A)
Cornelia de Lange syndrome 3 (SMC3)
Cornelia de Lange syndrome 4 (RAD21)
Cornelia de Lange syndrome 5 (HDAC8)
Developmental and epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
Developmental delay with short stature, dysmorphic facial features, sparse hair (DPH1)
Ellis-van Creveld syndrome (EVC)
Ellis-van Creveld syndrome (EVC2)
Frontonasal dysplasia 2 (ALX4)
Frontonasal dysplasia 3 (ALX1)
Joubert syndrome 1 (INPP5E)
Joubert syndrome 17 (CPLANE1)
Joubert syndrome 2 (TMEM216)
Joubert syndrome 21 (CSPP1)
Joubert syndrome 23 (KIAA0586)
Joubert syndrome 24 (TCTN2)
Joubert syndrome 28 (MKS1)
Joubert syndrome 3 (AHI)
Joubert syndrome 4 (NPHP1)
Joubert syndrome 5 (CEP290)
Joubert syndrome 6 (TMEM67)
Joubert syndrome 7 (RPGRIP1L)
Joubert syndrome 9 (CC2D2A)
Kabuki syndrome 1 (KMT2D)
Kabuki syndrome 2 (KDM6A)
Loucks-Innes syndrome (DPH1)
Meckel syndrome 1 (MKS1)
Meckel syndrome 2 (TMEM216)
Meckel syndrome 3 (TMEM67)
Meckel syndrome 4 (CEP290)
Meckel syndrome 5 (RPGRIP1L)
Meckel syndrome 6 (CC2D2A)
Meckel syndrome 8 (TCTN2)
Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
Mungan syndrome (RAD21)
Nephronophthisis 1, juvenile (NPHP1)
Orofaciodigital syndrome VI (CPLANE1)
RHYNS syndrome (TMEM67)
Ritscher-Schinzel syndrome 1 (WASHC5)
Ritscher-Schinzel syndrome 2 (CCDC22)
Ritscher-Schinzel syndrome 3 (VPS35L syn. C16orf62)
Senior-Loken syndrome 6 (CEP290)
Senior-Loken syndrome-1 (NPHP1)
Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
Weyers acrofacial dysostosis (EVC)
Weyers acrofacial dysostosis (EVC2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined