Deafness_IsolatedAndComplex
Gene: LRP2
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 listCreated: 19 May 2022, 11:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome, MIM#222448
Publications
Gene: lrp2 has been classified as Green List (High Evidence).
Gene: lrp2 has been classified as Green List (High Evidence).
Gene: lrp2 has been classified as Green List (High Evidence).
Gene: lrp2 has been classified as Green List (High Evidence).
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