Monogenic hearing loss
Gene: ABHD12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#612674:Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract[Hearing loss, sensorineural; Subcapsular cataractsRetinitis pigmentosaOptic atrophyNystagmus; Pes cavusAchilles tendon contracture; Distal muscle atrophy due to neurologic disease; AtaxiaSpasticityExtensor plantar responsesHyperreflexiaIntention tremorDysarthriaDysmetriaCerebellar atrophy; Sensorimotor peripheral neuropathyDistal sensory lossDemyelinating neuropathyHyporeflexiaDecreased nerve conduction velocities; Normal serum phytanic and pristanic acid]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 2:25 p.m.
Phenotypes for ABHD12 were set to hearing loss; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674; Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Hearing loss; Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674; #612674; Hearing loss, sensorineural; Subcapsular cataracts; Retinitis pigmentosa; Optic atrophy; Nystagmus; Pes cavus Achilles tendon contracture; Distal muscle atrophy due to neurologic disease; Ataxia Spasticity Extensor plantar responses; Hyperreflexia Intention; tremor; Dysarthria Dysmetria Cerebellar atrophy; Sensorimotor peripheral neuropathy; Distal sensory loss; Demyelinating neuropathy; Hyporeflexia; Decreased nerve conduction velocities; Normal serum phytanic and pristanic acid
Publications for ABHD12 were set to PMID: 20797687; 24697911
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene ABHD12 was changed to BIALLELIC, autosomal or pseudoautosomal
ABHD12 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene ABHD12 was changed to BIALLELIC, autosomal or pseudoautosomal
ABHD12 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
ABHD12 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen