IllnessFamilial congenital mirror movements; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Familial congenital mirror movements comprising 3 core candidate genes and altogether 20 curated genes according to the clinical signs

SP4994

Number of genes

8 Accredited laboratory test

Examined sequence length

7,2 kb (Core-/Core-canditate-Genes)
20,2 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
DCC	4344	120470	NM_005215.4	AR
NTN1	1821	601614	NM_004822.3	AD
RAD51	1023	179617	NM_001164269.2	AD
ANOS1	2043	300836	NM_000216.4	XLR
GDF3	1095	606522	NM_020634.3	AD
GDF6	1368	601147	NM_001001557.4	AD, AR
MEOX1	765	600147	NM_004527.4	AR
MYO18B	7704	607295	NM_032608.7	AR

Informations about the disease

Synonyms

Alias: Mirror movements, [familial] congenital
Allelic: Breast cancer, susceptibility to (RAD51)
Allelic: Cutaneous telangiectasia + cancer syndrome, familial (ATR)
Allelic: Esophageal carcinoma, somatic (DCC)
Allelic: Fanconi anemia, complementation group R (RAD51)
Allelic: Gaze palsy, familial horizontal, with progressive scoliosis, 2 (DCC)
Allelic: Leber congenital amaurosis 17 (GDF6)
Allelic: Microphthalmia with coloboma 6 (GDF3)
Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
Allelic: Microphthalmia, isolated 4 (GDF6)
Allelic: Microphthalmia, isolated 7 (GDF3)
Allelic: Multiple synostoses syndrome 4 (GDF6)
Basal cell nevus syndrome ((SSUFU)
Basal cell nevus syndrome (PTCH1)
Basal cell nevus syndrome (PTCH2)
Holoprosencephaly 7 (PTCH1)
Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
Jawad syndrome: microcephaly, mental retardation, digital anomalies (RBBP8)
Joubert patients may show mirror movements (AHI1, CC2D2A3, CEP290, CPLANE, TMEM67 + 29 add. genes)
Klippel-Feil syndrome 1, AD (GDF6)
Klippel-Feil syndrome 2 (MEOX1)
Klippel-Feil syndrome 3, AD (GDF3)
Klippel-Feil syndrome 4, AR, with myopathy + facial dysmorphism (MYO18B)
Medulloblastoma, desmoplastic (SUFU)
Microcephaly 6, primary, AR (CENPJ)
Microcephaly 9, primary, AR (CEP152)
Mirror movements 1 and/or agenesis of the corpus callosum (DCC)
Mirror movements 2 (RAD51)
Mirror movements 3 (DNAL4)
Mirror movements 4 (NTN1)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
Seckel syndrome 1 (ATR)
Seckel syndrome 10 (NSMCE2)
Seckel syndrome 2 (RBBP8)
Seckel syndrome 4 (CENPJ)
Seckel syndrome 5 (CEP152)
Seckel syndrome 6 (CEP63)
Seckel syndrome 7 (NIN)
Seckel syndrome 8 (DNA2)
Seckel syndrome 9 (TRAIP)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined