Genomics England

ABHD12

abhydrolase domain containing 12

Panel	Mode of inheritance	Details
Filter panels7 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 6.3	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 5.4	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 6.7	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 Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy,612674, Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
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 6.14	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 4.51	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 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857