Genomics England
GMS Panels
Panels
Genes and Entities

ABHD12

abhydrolase domain containing 12
OMIM: 613599
PanelMode of inheritanceDetails
6 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674, PHARC syndrome, MONDO:0012984
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 5.3
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
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary ataxia, Posterior segment abnormalities, Congenital hearing impairment (profound/severe), PHARC syndrome (Disorders of complex lipid synthesis)
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
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
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857