Monogenic diabetes
Gene: MT-TL1EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 22 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
MIDD;DIABETES AND DEAFNESS, MATERNALLY INHERITED;Diabetes-Deafness Syndrome, Maternally Transmitted;MELAS syndrome;Maternally inherited diabetesCreated: 16 Mar 2021, 2:01 p.m. | Last Modified: 16 Mar 2021, 2:01 p.m.
Panel Version: 2.24
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
- Phenotypes
-
- maternally-inherited diabetes and deafness, MONDO:0010785
- Tags
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Optic neuropathy
- Fetal hydrops
- Familial diabetes
- Retinal disorders
- Likely inborn error of metabolism
- Multi-organ autoimmune diabetes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Sudden death in young people
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: MT-TL1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MT-TL1 were changed from MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome; Maternally inherited diabetes to maternally-inherited diabetes and deafness, MONDO:0010785
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MT-TL1 were changed from MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome to MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome; Maternally inherited diabetes
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Initial gene list and info col
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MT-TL1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome for gene: MT-TL1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MT-TL1 was added gene: MT-TL1 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Phenotypes for gene: MT-TL1 were set to MELAS syndrome