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Intellectual disability

Gene: LIPT2

Amber List (moderate evidence)

LIPT2 (lipoyl(octanoyl) transferase 2)
EnsemblGeneIds (GRCh38): ENSG00000175536
EnsemblGeneIds (GRCh37): ENSG00000175536
OMIM: 617659, Gene2Phenotype
LIPT2 is in 9 panels

1 review

Catherine Snow (Genomics England)

Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes.

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. 3 patients from 2 families (PMID:28757203) in which Intellectual disability, profound, are a phenotypic feature.

The gene has been made Green in other panels (Pyruvate dehydrogenase (PDH) deficiency and following the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. However as only two variants and functional evidence is not applicable to ID, rating as amber until further evidence becomes avaliable
Created: 22 May 2019, 9:54 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Amber
  • Literature
Phenotypes
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668
Tags
watchlist
OMIM
617659
Clinvar variants
Variants in LIPT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag watchlist tag was added to gene: LIPT2.

25 Jul 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene LIPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: LIPT2 was added gene: LIPT2 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: LIPT2 was set to Publications for gene: LIPT2 were set to 28628643; 30914295 Phenotypes for gene: LIPT2 were set to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668