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Hearing loss

Gene: ABHD12

Green List (high evidence)

ABHD12 (abhydrolase domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 15 panels

3 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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 confirmed
Created: 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

History Filter Activity

17 Feb 2016, Gel status: 4

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

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ABHD12 were set to PMID: 20797687; 24697911

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABHD12 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 3

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

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABHD12 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 1

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