ABHD12

abhydrolase domain containing 12
OMIM: 613599, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red ABHD12 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green ABHD12 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.72 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Green ABHD12 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.8 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674 PHARC syndrome, MONDO:0012984
Green ABHD12 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
Red ABHD12 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.19 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Green ABHD12 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PHARC syndrome (Disorders of complex lipid synthesis) Congenital hearing impairment (profound/severe) Hereditary ataxia Posterior segment abnormalities
Green ABHD12 in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hereditary ataxia Posterior segment abnormalities Congenital hearing impairment (profound/severe) PHARC syndrome (Disorders of complex lipid synthesis)
Green ABHD12 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.507	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy,612674 Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Green ABHD12 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	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
Red ABHD12 in Intellectual disability Level 2: Developmental disorders Version 9.343 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
Green ABHD12 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 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 ABHD12 in Retinal disorders Level 2: Ophthalmology Version 8.100 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Eye Disorders Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Red ABHD12 in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674 Eye Disorders
Green ABHD12 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.44 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy,612674 Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Red ABHD12 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH