Syndromic Retinopathy
Gene: LRP2EnsemblGeneIds (GRCh38): ENSG00000081479
EnsemblGeneIds (GRCh37): ENSG00000081479
OMIM: 600073, Gene2Phenotype
LRP2 is in 15 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
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.Created: 19 May 2022, 11:57 p.m. | Last Modified: 19 May 2022, 11:57 p.m.
Panel Version: 0.14651
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.Created: 19 May 2022, 11:57 p.m. | Last Modified: 19 May 2022, 11:57 p.m.
Panel Version: 0.14651
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome, MIM#222448
Publications
- PMID: 17632512
Bryony Thompson (Royal Melbourne Hospital)
At least 3 families reported with retinopathy as a feature of the condition.
Sources: Expert listCreated: 25 May 2020, 1:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome MIM#222448
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Donnai-Barrow syndrome MIM#222448
- OMIM
- 600073
- Clinvar variants
- Variants in LRP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Proteinuria
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Congenital diaphragmatic hernia
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: lrp2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: lrp2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: LRP2 was added gene: LRP2 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP2 were set to 17632512 Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome MIM#222448 Review for gene: LRP2 was set to GREEN