ABHD12

abhydrolase domain containing 12
OMIM: 613599
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
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
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary ataxia, Posterior segment abnormalities, Congenital hearing impairment (profound/severe), PHARC syndrome (Disorders of complex lipid synthesis)
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857