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Newborns main panel

Gene: LDLRAP1

Green List (high evidence)
LDLRAP1 (low density lipoprotein receptor adaptor protein 1)
EnsemblGeneIds (GRCh38): ENSG00000157978
EnsemblGeneIds (GRCh37): ENSG00000157978
OMIM: 605747, Gene2Phenotype
LDLRAP1 is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34425670 - 1 family PMID: 34629743 - 1 case PMID: 33994332 - 1 case PMID: 32936664 - 1 case PMID: 32636080 - 1 case PMID: 32011344 - refer to 100 cases reported
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Homozygous Familial hypercholesterolaemia-4
OMIM
605747
Clinvar variants
Variants in LDLRAP1
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LDLRAP1 were changed from Homozygous Familial hypercholesterolemia-4 to Homozygous Familial hypercholesterolaemia-4

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LDLRAP1 were changed from Familial hypercholesterolemia-4 to Homozygous Familial hypercholesterolemia-4

10 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: ldlrap1 has been classified as Green List (High Evidence).

9 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: ldlrap1 has been classified as Amber List (Moderate Evidence).

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Familial hypercholesterolemia-4 for gene: LDLRAP1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to LDLRAP1. Added phenotypes Familial hypercholesterolemia-4 for gene: LDLRAP1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LDLRAP1. Added phenotypes Familial hypercholesterolemia-4 for gene: LDLRAP1 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: LDLRAP1 was added gene: LDLRAP1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LDLRAP1 were set to Familial hypercholesterolemia-4