Ichthyosis and erythrokeratoderma

Gene: MT-TS1

Red List (low evidence)

MT-TS1 (mitochondrially encoded tRNA serine 1 (UCN))
EnsemblGeneIds (GRCh38): ENSG00000210151
EnsemblGeneIds (GRCh37): ENSG00000210151
OMIM: 590080, Gene2Phenotype
MT-TS1 is in 8 panels

2 reviews

Helen Brittain (Genomics England Curator)

I don't know

Rebecca Foulger (Genomics England curator)

PMID:9450881 (Sevior et al., 1998) report a mitochondrial A7445G mutation in two pedigrees (NZ and Japanese) with palmoplantar keratoderma and deafness. A New Zealand and a Scottish pedigree with maternally inherited sensorineural deafness were both previously shown to carry a heteroplasmic A7445G mutation in MT-TS1. PMID:9450881 (Sevior et al., 1998) showed that relatives in the New Zealand family had palmoplantar keratoderma in addition to deafness. Sevior et al., went on to review a Japenese pedigree of 'palmoplanatar keratoderma and hearing loss' and document the same A7445G mutation. Furthermore, they review a Turkish pedigree (reported originally in 1975 by Bititci/PMID:127819) where affected individuals are all maternally related, suggesting a mitochondrial mutation.
Created: 3 Apr 2017, 2:38 p.m.

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MT-TS1 was added gene: MT-TS1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL Publications for gene: MT-TS1 were set to 9450881 Phenotypes for gene: MT-TS1 were set to Keratoderma, Palmoplantar, with deafness; palmoplantar keratoderma with deafness