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  3. LRP2
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Congenital diaphragmatic hernia

Gene: LRP2

Green List (high evidence)
LRP2 (LDL receptor related protein 2)
EnsemblGeneIds (GRCh38): ENSG00000081479
EnsemblGeneIds (GRCh37): ENSG00000081479
OMIM: 600073, Gene2Phenotype
LRP2 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CDH is a key feature.
Created: 20 Jun 2021, 9:52 a.m. | Last Modified: 20 Jun 2021, 9:52 a.m.
Panel Version: 0.56

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Donnai-Barrow syndrome, MIM# 222448

Created: 20 Jun 2021, 9:52 a.m.
Last Modified: 20 Jun 2021, 9:52 a.m.
Panel version: 0.56

History Filter Activity

20 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrp2 has been classified as Green List (High Evidence).

20 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRP2 were changed from to Donnai-Barrow syndrome, MIM# 222448

20 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRP2 was added gene: LRP2 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRP2 was set to Unknown