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Prepair 1000+

Gene: LIPT1

Green List (high evidence)

LIPT1 (lipoyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000144182
EnsemblGeneIds (GRCh37): ENSG00000144182
OMIM: 610284, Gene2Phenotype
LIPT1 is in 6 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Very rare, identified in 2 unrelated cases. Supported by experimental data. Leigh syndrome-like features. Delayed psychomotor development and hypotonia, acute metabolic decompensation, bradycardia.
Created: 12 Dec 2024, 2:15 a.m. | Last Modified: 12 Dec 2024, 2:15 a.m.
Panel Version: 1.694

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipoyltransferase 1 deficiency, 616299 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipoyltransferase 1 deficiency, 616299 (3)
OMIM
610284
Clinvar variants
Variants in LIPT1
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIPT1 was added gene: LIPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency, 616299 (3)