IllnessMEPAN syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for MEPAN syndrome comprising 8 curated genes according to the clinical signs

MP1299

Number of genes

7 Accredited laboratory test

Examined sequence length

1,4 kb (Core-/Core-canditate-Genes)
29,1 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Diagnostic indications

NGS + X

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
MECR	1392	608205	NM_016011.5	AR
ATP7B	4398	606882	NM_000053.4	AR
D2HGDH	1566	609186	NM_152783.5	AR
GCDH	1317	608801	NM_000159.4	AR
HTT	9429	613004	NM_002111.8	AR
SLC19A3	1491	606152	NM_025243.4	AR
VPS13A	9408	605978	NM_033305.3	AR

Synonyms

Alias: Dystonia, childhood-onset, with optic atrophy + basal ganglia abnormalities (MECR)
Alias: MECR-Related Neurologic Disorder
Alias: Mitochondrial Enoyl CoA reductase Protein-Associated Neurodegeneration, MEPAN (MECR)
Allelic: Huntington disease (HTT_CAG)
Choreoacanthocytosis (VPS13A)
Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
D-2-hydroxyglutaric aciduria (D2HGDH)
Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
Glutaricaciduria, type I (GCDH)
Lopes-Maciel-Rodan syndrome (HTT)
Thiamine metabolism dysfunction s., biotin-/thiamine-responsive encephalopathy type 2 (SLC19A3)
Wilson disease (ATP7B)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

No text defined