Monogenic hearing loss
Gene: MT-TS1
Mode of inheritance
MITOCHONDRIAL
Comment on list classification: Good evidence from OMIM and expertCreated: 1 Feb 2016, 5:01 p.m.
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
Tag gene-checked tag was added to gene: MT-TS1.
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
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
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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
MT-TS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory