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Deafness_IsolatedAndComplex

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness.

Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
Sources: Expert list
Created: 19 May 2022, 11:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Donnai-Barrow syndrome, MIM#222448

Publications

History Filter Activity

30 May 2022, 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).

19 May 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

19 May 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

19 May 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

19 May 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: LRP2 was added gene: LRP2 was added to Deafness_IsolatedAndComplex. Sources: Expert list Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP2 were set to PMID: 17632512 Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448 Review for gene: LRP2 was set to GREEN