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Hearing loss

Gene: NF1

Red List (low evidence)

NF1 (neurofibromin 1)
EnsemblGeneIds (GRCh38): ENSG00000196712
EnsemblGeneIds (GRCh37): ENSG00000196712
OMIM: 613113, Gene2Phenotype
NF1 is in 29 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#162200:Neurofibromatosis, type 1[MacrocephalySphenoid dysplasia; Lisch nodules (iris hamartomas)GlaucomaHypertelorism; Renal artery stenosisHypertension; ScoliosisSpina bifida; PseudoarthrosisThinning of long bone cortexLocal bony overgrowth; NeurofibromasPlexiform neurofibromaCafe-au-lait spotsAxillary frecklingInguinal freckling; Learning disabilities (30%)Mental retardation, mild (10%)Aqueductal stenosisHydrocephalus; Optic gliomaMeningiomaHypothalamic tumorNeurofibrosarcomaRhabdomyosarcomaDuodenal carcinoidSomatostatinomaParathyroid adenomaPheochromocytomaPilocytic astrocytomaMalignant peripheral nerve sheath tumorsTumors at multiple other sites including CNS]; #162210:Neurofibromatosis, familial spinal[Lisch nodules (iris hamartomas) may or may not be present; Neurofibromas may or may not be presentCafe-au-lait spots may or may not be presentFreckling may or may not be present; Spinal nerve root neurofibromas, symmetric, multipleNeurofibromas can occur at cervical, thoracic, lumbar, and sacral levelsParaparesisLower extremity weakness]; #193520:Watson syndrome[Short stature; Relative macrocephaly; Lisch nodules; Pulmonary valvular stenosis; Multiple cafe-au-lait spotsNeurofibromasAxillary freckling; Low IQ]; #601321:Neurofibromatosis-Noonan syndrome[Short stature; Macrocephaly; Midface hypoplasiaProminent nasolabial folds; Low-set earsPosteriorly rotated ears; HypertelorismDownslanted palpebral fissuresPtosisEpicanthal foldsLisch nodules; Low nasal root; Webbed neckShort neckWebbed neck; Pulmonic stenosis; Pectus carinatum superiorlyPectus excavatum inferiorly; Cryptorchidism; Scoliosis; Cubitus valgus; Cafe-au-lait spotsAxillary frecklingInguinal frecklingNeurofibromas; Low posterior hairlineFrontal upsweep of the hair; Speech delayArticulation defectsDevelopmental delay, mildUnidentified bright objects on brain MRI; Optic gliomaNeurofibromasLow incidence of plexiform neurofibromas]; #607785:Leukemia, juvenile myelomonocytic[<omim version=1.0><clinicalSynopsisList>]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NF1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert