PanelApp (stage)
  1. Genes and Genomic Entities
  2. ACBD5

ACBD5

acyl-CoA binding domain containing 5
OMIM: 616618, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green ACBD5 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinal dystrophy with leukodystrophy, MIM# 618863

Green ACBD5 in Peroxisomal Disorders


Level 2: Metabolic disorders
Version 0.53

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Retinal dystrophy with leukodystrophy (MIM#618863)

    Amber ACBD5 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 Amber
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leukodystrophy
    • syndromic cleft palate
    • ataxia
    • retinal dystrophy

    Green ACBD5 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Progressive leukodystrophy
    • syndromic cleft palate
    • ataxia
    • retinal dystrophy

    Green ACBD5 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
    • RetNet
    • Expert list
    Phenotypes
    • Retinal dystrophy with leukodystrophy (MIM#618863)

    Red ACBD5 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Thrombocytopaenia

    Red ACBD5 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Retinal dystrophy with leukodystrophy, MIM# 618863
    • Cleft palate

    Red ACBD5 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Retinal dystrophy with leukodystrophy - MIM#618863

    Red ACBD5 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Thrombocytopaenia