Arthrogryposis
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 23 panels
EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 23 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 5 Jan 2017, 10:17 a.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- UKGTN
- Tags
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric pseudo-obstruction syndrome
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Fetal hydrops
- Fetal anomalies
- Hypertrophic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Congenital myopathy
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Hereditary neuropathy
- Familial diabetes
- Multi-organ autoimmune diabetes
- DDG2P
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Sudden death in young people
- Likely inborn error of metabolism
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-TL1.
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
5 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MT-TL1 was created by ellenmcdonagh
21 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TL1 was added to Arthrogryposispanel. Sources: UKGTN