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  3. LDLRAP1
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Familial hypercholesterolaemia

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 28 Mar 2022, 4:02 a.m. | Last Modified: 28 Mar 2022, 4:02 a.m.
Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypercholesterolemia, familial, 4, MIM# 603813

Publications

Created: 28 Mar 2022, 4:02 a.m.
Last Modified: 28 Mar 2022, 4:02 a.m.
Panel version: 0.21

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene-disease association
Created: 27 Mar 2022, 11:43 p.m. | Last Modified: 27 Mar 2022, 11:43 p.m.
Panel Version: 0.12053

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypercholesterolemia, familial, 4, MIM# 603813

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 Mar 2022, 11:43 p.m.
Last Modified: 27 Mar 2022, 11:43 p.m.
Panel version: Imported from Mendeliome panel version 0.12053

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercholesterolemia, familial, 4, MIM# 603813
OMIM
605747
Clinvar variants
Variants in LDLRAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LDLRAP1 were set to

27 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813 to Hypercholesterolemia, familial, 4, MIM# 603813

27 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813 to Hypercholesterolemia, familial, 4, MIM# 603813

27 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: LDLRAP1 were changed from to Hypercholesterolemia, familial, 4, MIM# 603813

27 Mar 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: LDLRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

9 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LDLRAP1 was added gene: LDLRAP1 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LDLRAP1 was set to Unknown