Monogenic hearing loss
Gene: ABHD12EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 15 panels
3 reviews
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
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
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 2:25 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- 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
- OMIM
- 613599
- Clinvar variants
- Variants in ABHD12
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Retinal disorders
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Monogenic hearing loss
- Hereditary ataxia
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ABHD12 were set to PMID: 20797687; 24697911
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ABHD12 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ABHD12 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ABHD12 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ABHD12 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)ABHD12 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen