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Prepair 1000+

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

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by unusual facial features, including markedly widely spaced eyes, enlarged globes, downslanted palpebral fissures, posteriorly rotated ears, depressed nasal bridge, and short nose and a widow's peak hairline. Individuals have severe sensorineural hearing loss, vision problems, including high myopia, detachment or deterioration of the retina, and progressive vision loss. Some have iris coloboma. Almost all have underdeveloped or absent corpus collosum, and may also have other structural brain abnormalities. Generally have mild to moderate intellectual disability and developmental delay. They can also have congenital diaphragmatic hernia or omphalocele and other abnormalities of the intestine, heart, or other organs. Both inter- and intrafamilial phenotypic variability are observed.
>15 families reported.
Created: 5 Mar 2025, 4:29 a.m. | Last Modified: 5 Mar 2025, 4:29 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Donnai-Barrow syndrome, MIM #222448

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Donnai-Barrow syndrome, 222448 (3) for gene: LRP2

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: LRP2 was added gene: LRP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)