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Hearing loss

Gene: NDP

Red List (low evidence)

NDP (NDP, norrin cystine knot growth factor)
EnsemblGeneIds (GRCh38): ENSG00000124479
EnsemblGeneIds (GRCh37): ENSG00000124479
OMIM: 300658, Gene2Phenotype
NDP is in 9 panels

1 review

Jun Shen (Harvard Medical School)

Inheritance:X-linked recessive
Created: 9 Feb 2016, 10:07 a.m.
Inheritance:X-linked recessive Inheritance:X-linked recessive
Created: 7 Feb 2016, 8:59 a.m.

Mode of inheritance
Other

Phenotypes
#305390:Exudative vitreoretinopathy 2, X-linked[Decreased visual acuityNystagmus (in some patients)Retinal foldRetinal tearRetinal detachmentDragged maculaAvascular peripheral retinaChorioretinal scarring in temporal peripheryFibrous tissue in temporal retinaVitreous degenerationRetinal holes (in some patients)Hyaloid remnant (in some patients)Retinal vascular tortuosity (in some patients)Retinal neovascularization (rare)Retinal deposits (rare)Microphthalmia (rare)Phthisis (rare)]; #310600:Norrie disease[Sensorineural deafness (onset in the second decade in 25 to 30% of patients); Intraocular retrolental masses, bilateral (' pseudoglioma' )Blindness in infancy or very early childhoodRetinal foldsRetinal detachmentPhthisical globeMicrophthalmiaRetinal dysgenesisRetinal dysplasiaVitreal opacitiesCorneal opacitiesShallow anterior chamberHistopathology shows rosettes of immature retinal cells in vascular connective tissueHyperplastic vitreousHypoplastic irisIris synechiaeCataractOptic atrophy; Mental retardation, progressive (50% of patients)Dementia (later onset)Seizures (rare); Psychosis (25% of patients)HallucinationsAggressive behavior]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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