Likely inborn error of metabolism - targeted testing not possible
Gene: APOA1
Both biallelic and monoallelic APOA1 variants are associated with OMIM:618463, however, heterozygous cases have either a milder phenotype or are unaffected. Certain heterozygous APOA1 variants are regarded as Amyloidogenic and are associated with OMIM:105200 (PMID 32022753, 24 variants listed in table 1).Created: 3 Aug 2021, 5:53 p.m. | Last Modified: 3 Aug 2021, 5:53 p.m.
Panel Version: 2.158
Associated with phenotype in OMIM, not in G2P. At least variants 14 variants reported in apolipoprotein A1 deficiency and at least variants 6 variants reported in amyloidosisCreated: 23 Feb 2017, 5:11 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Amyloidosis, 3 or more types 105200; ApoA-I and apoC-III deficiency, combined; Corneal clouding, autosomal recessive; Hypoalphalipoproteinemia 604091
Publications
Phenotypes for gene: APOA1 were changed from Corneal clouding, autosomal recessive; Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism); ApoA-I and apoC-III deficiency, combined; Amyloidosis, 3 or more types 105200; Hypoalphalipoproteinemia 604091 to Amyloidosis, 3 or more types OMIM:105200; familial visceral amyloidosis MONDO:0007099; ApoA-I and apoC-III deficiency, combined OMIM:618463; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463; hypoalphalipoproteinemia, primary, 2 MONDO:0032766
Publications for gene: APOA1 were set to 27604308
Source NHS GMS was added to APOA1. Source London North GLH was added to APOA1.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: APOA1 was added gene: APOA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOA1 were set to 27604308 Phenotypes for gene: APOA1 were set to Corneal clouding, autosomal recessive; Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism); ApoA-I and apoC-III deficiency, combined; Amyloidosis, 3 or more types 105200; Hypoalphalipoproteinemia 604091