PanelApp
  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 1.3512

2 reviews 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 0.56

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 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 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 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 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews 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

    		0 reviews 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 0.278

    		1 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 1.465

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

    Red ACBD5 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

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