Palmoplantar keratoderma and erythrokeratodermas
Gene: MT-TS1
MT-TS1 (mitochondrially encoded tRNA serine 1 (UCN))
EnsemblGeneIds (GRCh38): ENSG00000210151
EnsemblGeneIds (GRCh37): ENSG00000210151
OMIM: 590080, Gene2Phenotype
MT-TS1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000210151
EnsemblGeneIds (GRCh37): ENSG00000210151
OMIM: 590080, Gene2Phenotype
MT-TS1 is in 7 panels
2 reviews
Helen Brittain (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Other
- Phenotypes
-
- palmoplantar keratoderma with deafness
- Keratoderma, Palmoplantar, with deafness
- Tags
- OMIM
- 590080
- Clinvar variants
- Variants in MT-TS1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
29 Jul 2024, Gel status: 1
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-transfer tag was added to gene: MT-TS1.
11 Apr 2017, Gel status: 0
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
5 Jan 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)MT-TS1 was created by rfoulger
5 Jan 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)MT-TS1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other