Anophthalmia_Microphthalmia_Coloboma
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. Colobomas reported.
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, 11:55 p.m. | Last Modified: 19 May 2022, 11:55 p.m.
Panel Version: 1.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome, MIM#222448
Publications
- PMID: 17632512
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Iris coloboma is part of the phenotype.
Sources: Expert listCreated: 24 Dec 2019, 12:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome, MIM#222448
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LRP2 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrp2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrp2 has been classified as Green List (High Evidence).
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 Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448 Review for gene: LRP2 was set to GREEN