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  2. Likely inborn error of metabolism
  3. LCAT
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Likely inborn error of metabolism

Gene: LCAT

Green List (high evidence)
LCAT (lecithin-cholesterol acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000213398
EnsemblGeneIds (GRCh37): ENSG00000213398
OMIM: 606967, Gene2Phenotype
LCAT is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

>3 unrelated cases of LCAT deficiency (Norum disease) in multiple populations. LCAT deficiency is a disorder of lipoprotein metabolism. Plus additional cases from the lipoprotein metabolic disease 'Fish-eye' (corneal clouding).
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Norum disease/LCAT deficiency, 245900; Fish-eye disease, 136120

Publications

Created: 23 Feb 2017, 5:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
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)
OMIM
606967
Clinvar variants
Variants in LCAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LCAT. Source London North GLH was added to LCAT.

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

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

Ellen McDonagh (Genomics England Curator)

gene: LCAT was added gene: LCAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCAT were set to 27604308 Phenotypes for gene: LCAT were set to Norum disease/LCAT deficiency, 245900; Fish-eye disease, 136120; Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)