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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 7 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive familial hypercholesterolemia-4 (FCHL4) is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease.

Well-established gene-disease association. Childhood onset has been reported.

Planar, tuberous, or tendon xanthomas have also been reported to develop in childhood.
Created: 29 Jan 2025, 5:39 a.m. | Last Modified: 29 Jan 2025, 5:39 a.m.
Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial hypercholesterolemia 4, MIM#603813

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Familial hypercholesterolemia 4, MIM#603813
OMIM
605747
Clinvar variants
Variants in LDLRAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive, 603813 (3) to Familial hypercholesterolemia 4, MIM#603813

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LDLRAP1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hypercholesterolemia, familial, autosomal recessive, 603813 (3) for gene: LDLRAP1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LDLRAP1 was added gene: LDLRAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, autosomal recessive, 603813 (3)