LIPT2

lipoyl(octanoyl) transferase 2
OMIM: 617659, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green LIPT2 in Pyruvate dehydrogenase (PDH) deficiency Version 1.36 Latest signed off version: v1.2 (17 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:0060562
Green LIPT2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668
Green LIPT2 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668
Amber LIPT2 in Fetal anomalies Version 3.157 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Green LIPT2 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Amber LIPT2 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.195 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668 Tags watchlist
Amber LIPT2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	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
Green LIPT2 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Other Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668
Green LIPT2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668