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Hearing loss

Gene: MT-TS1

Green List (high evidence)

MT-TS1 (mitochondrially encoded tRNA serine 1 (UCN))
EnsemblGeneIds (GRCh38): ENSG00000210151
EnsemblGeneIds (GRCh37): ENSG00000210151
OMIM: 590080, Gene2Phenotype
MT-TS1 is in 7 panels

3 reviews

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert
Created: 1 Feb 2016, 5:01 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Causes PPK with deafness. Have seen it referred as non-syndromic congenital deafness.Would want to know about a tier 1 variant in this gene.
Created: 19 Oct 2015, 6:43 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • MERRF/MELAS OVERLAP SYNDROME
  • MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
  • KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES, INCLUDED
  • EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA
OMIM
590080
Clinvar variants
Variants in MT-TS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 May 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: MT-TS1 were set to PMID:10094190; 10340654; 10371545; 10545608; 10978361; 11069477; 11175301; 11378827; 12461693; 127819; 14605505; 17659260; 20153673; 6213205; 7219534; 7581383; 7669057; 7987332; 8019558; 8572257; 9450881; 9742104; 9832034

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MT-TS1 were set to MERRF/MELAS OVERLAP SYNDROME; MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES, INCLUDED; EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MT-TS1 were set to PMID:10094190; 10340654; 10371545; 10545608; 10978361; 11069477; 11175301; 11378827; 12461693; 127819; 14605505; 17659260; 20153673; 6213205; 7219534; 7581383; 7669057; 7987332; 8019558; 8572257; 9450881; 9742104; 9832034

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MT-TS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory