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Monogenic hearing loss

Gene: LRP2

Red List (low evidence)
LRP2 (LDL receptor related protein 2)
EnsemblGeneIds (GRCh38): ENSG00000081479
EnsemblGeneIds (GRCh37): ENSG00000081479
OMIM: 600073, Gene2Phenotype
LRP2 is in 8 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#222448:Donnai-Barrow syndrome[Birth weight - 50-97th percentile; Large anterior fontanelMacrocephaly; Midface hypoplasia; Deafness, sensorineuralLow-set earsPosteriorly rotated ears; HypertelorismHigh myopiaLoss of visionIris colobomaIris hypoplasiaCataractEnlarged globesDownslanting palpebral fissuresUnderorbital skin creasesRetinal detachmentRetinal dystrophyProminent eyes; Short noseFlat nasal bridgeBroad tip; Ventricular septal defect (less common)Double superior vena cava (rare); Pulmonary hypoplasia secondary to diaphragmatic hernia; Diaphragmatic herniaDiaphragmatic eventration; OmphaloceleUmbilical hernia; Intestinal malrotation; Bicornuate uterus (rare); Widened metopic suture; Underorbital skin creases; Partial or complete agenesis of corpus callosumDevelopmental delay; ProteinuriaUrinary excretion of retinol-binding proteins (RBP) and vitamin D-binding proteins (DBP); Caused by mutation in the low density lipoprotein receptor-related protein 2 gene (LRP2,)]

Publications

Created: 7 Feb 2016, 8:52 a.m.

Panel version: 0.105

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LRP2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert