NARP syndrome

Disease Export to PDF

Name:	NARP syndrome
Description:	A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
ORPHAcode:	644
Synonyms:	Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome Neuropathy-ataxia-retinitis pigmentosa syndrome
XREF(s):	Orphanet OMIM ICD-10 MedDRA
Analyte(s):	MT-ATP6
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Leigh / NARP Syndrome
• Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome (hot spot mutation - m.8993T>C/G)

Related Laboratories

• Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
• Centrum Medische Genetica - UZ Brussel VUB

Related Analytes

• MT-ATP6

Related Gene Panels

• Leigh syndrome (mtDNA / 37 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MT-ND1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND3	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND4L	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND4	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND5	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND6	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO3	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ATP8	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ATP6	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CYB	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TF	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TQ	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TW	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TL1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TH	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TS1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TS2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TP	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TK	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TT	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TL2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TV	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TE	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TI	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TM	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TN	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TA	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TC	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TG	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TR	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TY	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TD	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-RNR1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-RNR2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations