Mitochondrial disease
Gene: LIPT1EnsemblGeneIds (GRCh38): ENSG00000144182
EnsemblGeneIds (GRCh37): ENSG00000144182
OMIM: 610284, Gene2Phenotype
LIPT1 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation
Elena Savva (Victorian Clinical Genetics Services)
LOF proven (OMIM)Created: 30 Jan 2020, 10:45 p.m. | Last Modified: 30 Jan 2020, 10:45 p.m.
Panel Version: 0.1054
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipoyltransferase 1 deficiency
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Phenotypes
-
- Lipoyltransferase 1 deficiency, MIM#616299
- Leigh-like presentation
- OMIM
- 610284
- Clinvar variants
- Variants in LIPT1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lipt1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LIPT1 was added gene: LIPT1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: LIPT1 was set to Unknown