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Mendeliome

Gene: LRP1

Amber List (moderate evidence)

LRP1 (LDL receptor related protein 1)
EnsemblGeneIds (GRCh38): ENSG00000123384
EnsemblGeneIds (GRCh37): ENSG00000123384
OMIM: 107770, Gene2Phenotype
LRP1 is in 1 panel

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID 36067312: third gene-disease association proposed with DDH. Two parent-child pairs identified with missense variants in this gene. GnomadV4: one is present in over 45 individuals and the other in over 25. Other rare variants identified in additional individuals as part of a cohort study, with little supportive information. Functional studies on the original two variants support LoF effect, and mouse model recapitulates phenotype. Overall, borderline Red-Amber.
Created: 23 Aug 2024, 3:31 a.m. | Last Modified: 23 Aug 2024, 3:31 a.m.
Panel Version: 1.1965

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental dysplasia of the hip 3, MIM# 620690

Publications

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: Two papers without related phenotypes and little overall evidence for gene disease association.
Created: 6 Sep 2021, 5:44 a.m. | Last Modified: 6 Sep 2021, 5:44 a.m.
Panel Version: 0.9081

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 26142438 - 1 hom missense segregated in 3 sibs and a homozygous 1st cousin with keratosis pilaris atrophicans. Variant is very rare in gnomAD. Patient fibroblast qRT-PCR shows significantly reduced mRNA expression and resulting protein expression

PMID: 33776059 - 2x unrelated chet missense patients with inherited retinal disorder/macular drusen (most missense rare, no functional).

GnomAD - no homozygous PTCs
Created: 6 Sep 2021, 5:35 a.m. | Last Modified: 6 Sep 2021, 5:35 a.m.
Panel Version: 0.9075

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Keratosis pilaris atrophicans MIM#604093

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental dysplasia of the hip 3, MIM# 620690
  • Keratosis pilaris atrophicans MIM#604093
OMIM
107770
Clinvar variants
Variants in LRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Aug 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRP1 were changed from to Developmental dysplasia of the hip 3, MIM# 620690; Keratosis pilaris atrophicans MIM#604093

23 Aug 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRP1 were set to

23 Aug 2024, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

23 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrp1 has been classified as Amber List (Moderate Evidence).

6 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: lrp1 has been classified as Red List (Low Evidence).

6 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: lrp1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRP1 was added gene: LRP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRP1 was set to Unknown