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Intellectual disability syndromic and non-syndromic

Gene: LIPT2

Amber List (moderate evidence)

LIPT2 (lipoyl(octanoyl) transferase 2)
EnsemblGeneIds (GRCh38): ENSG00000175536
EnsemblGeneIds (GRCh37): ENSG00000175536
OMIM: 617659, Gene2Phenotype
LIPT2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from two unrelated families; profound ID.
Sources: Expert list
Created: 9 Feb 2020, 7:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668

Publications

Details

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

History Filter Activity

9 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lipt2 has been classified as Amber List (Moderate Evidence).

9 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lipt2 has been classified as Amber List (Moderate Evidence).

9 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIPT2 was added gene: LIPT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT2 were set to 28757203 Phenotypes for gene: LIPT2 were set to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Review for gene: LIPT2 was set to AMBER