Hereditary systemic amyloidosis
Gene: APOA1
It would appear that certain heterozygous APOA1 variants are associated with Amyloidosis, 3 or more types OMIM:105200 (PMID 32022753, 24 variants listed in table 1).Created: 3 Aug 2021, 5:05 p.m. | Last Modified: 3 Aug 2021, 5:07 p.m.
Panel Version: 1.11
Comment on mode of inheritance: Both biallelic and monoallelic variants have been associated with ApoA-I and apoC-III deficiency, combined OMIM:618463;
Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463;hypoalphalipoproteinemia, primary, 2 MONDO:0032766Created: 3 Aug 2021, 5 p.m. | Last Modified: 3 Aug 2021, 5 p.m.
Panel Version: 1.10
Publications
Associated with Amyloidosis, 3 or more types (#105200) in OMIM.
More than 3 cases reported.Created: 13 Aug 2019, 10:37 a.m. | Last Modified: 13 Aug 2019, 10:37 a.m.
Panel Version: 0.7
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted: APOA1;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. Other Comments: Already on the Periodic Fever Syndrome AppCreated: 2 Feb 2019, 3:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
105200
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: APOA1 were set to 27240838; 21820994; 16925563
Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APOA1 were changed from Amyloidosis, 3 or more types 105200 to Amyloidosis, 3 or more types OMIM:105200; familial visceral amyloidosis MONDO:0007099
Phenotypes for gene: APOA1 were changed from 105200 to Amyloidosis, 3 or more types 105200
gene: APOA1 was added gene: APOA1 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOA1 were set to 27240838; 21820994; 16925563 Phenotypes for gene: APOA1 were set to 105200