Corneal abnormalities

Gene: APOA1

Red List (low evidence)

APOA1 (apolipoprotein A1)
EnsemblGeneIds (GRCh38): ENSG00000118137
EnsemblGeneIds (GRCh37): ENSG00000118137
OMIM: 107680, Gene2Phenotype
APOA1 is in 10 panels

2 reviews

Chris Campbell (GEL)

Red List (low evidence)

Homozygous mutations in APOA1 present with severe premature coronary artery disease mild corneal arcus and opacification. Therefore distinct corneal appearance and highly unlikely that the corneal changes would be the only presenting symptom.
Created: 9 Mar 2017, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypoalphalipoproteinemia 604091; Amyloidosis, 3 or more types 105200

Publications

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 20616715 "Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure."
Created: 3 Mar 2017, 11:35 a.m.
Comment on publications: PMID: 22755272 patients with primary dyslipidaemia can display corneal arcus.
Created: 3 Mar 2017, 11:32 a.m.
Comment on list classification: Corneal abnormalities would be likely be secondary to presenting with Familial hypercholesterolaemia, but may be an important corneal abnormality gene.
Created: 22 Feb 2017, 10:26 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Corneal clouding, autosomal recessive
  • Familial LCAT deficiency
OMIM
107680
Clinvar variants
Variants in APOA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 1

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

9 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Red List (Low Evidence).

3 Mar 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for APOA1 were set to 1898657; 22755272; 20616715; 19515369; 17991756;10073988

3 Mar 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for APOA1 were set to 1898657; 22755272; 20616715; 19515369;17991756

3 Mar 2017, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for APOA1 were set to Corneal clouding, autosomal recessive;Familial LCAT deficiency

3 Mar 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for APOA1 were set to 1898657; 22755272; 20616715;19515369

3 Mar 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for APOA1 were set to 1898657; 22755272; 20616715

3 Mar 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for APOA1 were set to 1898657;22755272

3 Mar 2017, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for APOA1 were set to Corneal clouding, autosomal recessive

3 Mar 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for APOA1 were set to 1898657

3 Mar 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for APOA1 was changed to BIALLELIC, autosomal or pseudoautosomal

22 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

APOA1 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen