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Inborn errors of metabolism

Gene: LIPT1

Green List (high evidence)

LIPT1 (lipoyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000144182
EnsemblGeneIds (GRCh37): ENSG00000144182
OMIM: 610284, Gene2Phenotype
LIPT1 is in 8 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 10 Feb 2016, 12:36 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 10 Feb 2016, 12:35 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Lipoyltransferase 1 deficiency for gene: LIPT1

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LIPT1 was added gene: LIPT1 was added to Inborn errors of metabolism. Sources: 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