ABHD12

abhydrolase domain containing 12
OMIM: 613599, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ABHD12 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
Green ABHD12 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Green ABHD12 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ABHD12 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
Green ABHD12 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Green ABHD12 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Green ABHD12 in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.147 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes nonsyndromic retinitis pigmentosa Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Green ABHD12 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia Neurodegeneration, childhood-onset, with cerebellar atrophy,612674 HMSN
Green ABHD12 in Usher Syndrome Level 2: Ophthalmological disorders Version 1.5 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 Usher syndrome type 3
Green ABHD12 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list RetNet Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Amber ABHD12 in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Syndromic auditory neuropathy spectrum disorder
Green ABHD12 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 disorder of of endocannabinoid metabolism
Red ABHD12 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674