Familial diabetes
Gene: MT-TL1
MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G))
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 22 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: MT-TL1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Maternally inherited diabetes.Created: 11 Jan 2019, 10:04 a.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MITOCHONDRIAL
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and additional evidence on OMIM and from literature search.Created: 15 Jun 2016, 2:43 p.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Phenotypes
-
- MELAS syndrome
- Tags
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Sudden death in young people
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Monogenic diabetes
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- Optic neuropathy
- Fetal hydrops
- Familial diabetes
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Arthrogryposis
- Multi-organ autoimmune diabetes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Monogenic hearing loss
History Filter Activity
15 Jul 2024, Gel status: 3
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
4 May 2022, Gel status: 3
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: MT-TL1.
27 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Jun 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-TL1 were set to MELAS syndrome
15 Jun 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MT-TL1 was changed to MITOCHONDRIAL
15 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()MT-TL1 was added to Familial diabetespanel. Sources: UKGTN