LCAT

lecithin-cholesterol acyltransferase
OMIM: 606967, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red LCAT in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.30	review	Not set	Sources Emory Genetics Laboratory Phenotypes Hypercholesterolemia
Green LCAT in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Fish-eye disease 136120 Norum disease 245900
Green LCAT in Corneal dystrophy Version 3.10 Latest signed off version: v3.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH Phenotypes Fish-eye disease 136120 Norum disease 245900
Amber LCAT in Unexplained young onset end-stage renal disease Version 3.41 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Norum disease, OMIM:245900 Norum disease, MONDO:0009515 LCAT DEFICIENCY Tags Q4_23_promote_green
Green LCAT in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) Norum disease/LCAT deficiency, 245900 Fish-eye disease, 136120
Green LCAT 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 London North GLH NHS GMS Expert Review Green Phenotypes Norum disease/LCAT deficiency, 245900 Fish-eye disease, 136120 Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)
Red LCAT in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Norum disease, 245900 Fish-eye disease, 136120
Green LCAT in Proteinuric renal disease Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Norum disease, OMIM:245900 Norum disease, MONDO:0009515 LCAT DEFICIENCY
Red LCAT in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green LCAT in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Fish-eye disease, 136120 Norum disease, 245900