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  2. Likely inborn error of metabolism
  3. LDLRAP1
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Likely inborn error of metabolism

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

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported.
Created: 15 Aug 2019, 1:41 p.m. | Last Modified: 15 Aug 2019, 1:41 p.m.
Panel Version: 1.167
Comment on phenotypes: Familial hypercholesterolaemia;Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias)
Created: 15 Aug 2019, 1:36 p.m. | Last Modified: 15 Aug 2019, 1:36 p.m.
Panel Version: 1.165
Created: 15 Aug 2019, 1:36 p.m.
Last Modified: 15 Aug 2019, 1:36 p.m.
Panel version: 1.165

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypercholesterolemia, familial, 4 603813
OMIM
605747
Clinvar variants
Variants in LDLRAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

15 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LDLRAP1 were set to 27604308

15 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LDLRAP1 were changed from Familial hypercholesterolaemia; Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 4 603813

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LDLRAP1. Source London North GLH was added to LDLRAP1.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: LDLRAP1 was added gene: LDLRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDLRAP1 were set to 27604308 Phenotypes for gene: LDLRAP1 were set to Familial hypercholesterolaemia; Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias)