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	Heredity
MECR	1392	608205	AR
ATP7B	4398	606882	AR
D2HGDH	1566	609186	AR
GCDH	1317	608801	AR
HTT	9429	613004	AD
SLC19A3	1491	606152	AR
VPS13A	9408	605978	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

E88.8

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