Rare mitochondrial non-syndromic sensorineural deafness

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Name:	Rare mitochondrial non-syndromic sensorineural deafness
ORPHAcode:	90641
Synonyms:	Isolated mitochondrial neurosensory deafness Isolated mitochondrial neurosensory hearing loss Isolated mitochondrial sensorineural deafness Isolated mitochondrial sensorineural hearing loss Mitochondrial non-syndromic neurosensory deafness Mitochondrial non-syndromic neurosensory hearing loss Mitochondrial non-syndromic sensorineural hearing loss
XREF(s):	Orphanet OMIM OMIM OMIM OMIM ICD-10
Analyte(s):	POU3F4 MT-ND4 TFB1M TRMU MT-CO1 MT-RNR1 MT-TH MT-TS1
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Deafness, X-linked
• Leigh / NARP Syndrome
• Maternally inherited deafness

Related Laboratories

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

Related Analytes

• MT-CO1
• MT-ND4
• MT-RNR1
• MT-TH
• MT-TS1
• POU3F4
• TFB1M
• TRMU

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