Fetal hydrops
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
1 review
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: LiteratureCreated: 11 Apr 2024, 4:06 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Nonimmune hydrops fetalis
Publications
- PMID: 33082562
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Phenotypes
-
- Nonimmune hydrops fetalis
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- None
- Publications
-
- PMID: 33082562
- 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
11 Apr 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Irina Adamena (Children's Clinical University Hospital)gene: MT-TL1 was added gene: MT-TL1 was added to Fetal hydrops. Sources: Literature Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to PMID: 33082562 Phenotypes for gene: MT-TL1 were set to Nonimmune hydrops fetalis Review for gene: MT-TL1 was set to GREEN