PanelApp
  1. Genes and Genomic Entities
  2. ABHD12

ABHD12

abhydrolase domain containing 12
OMIM: 613599, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ABHD12 in Cataract


Level 2: Ophthalmological disorders
Version 0.396

2 reviews 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 1.3795

2 reviews 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 0.600

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ABHD12 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

2 reviews 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


Level 2: Neurology and neurodevelopmental disorders
Version 1.158

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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


    Level 2: Ophthalmological disorders
    Version 0.225

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 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 1.45

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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

    		•  1 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 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews 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

    Green ABHD12 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.59

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674