AP4M1

adaptor related protein complex 4 mu 1 subunit
OMIM: 602296, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green AP4M1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, MIM# 612936

Green AP4M1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, MIM# 612936

Green AP4M1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 50, autosomal recessive (MIM#612936)

Red AP4M1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, MIM# 612936

Green AP4M1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, MIM# 612936

Green AP4M1 in Hereditary Spastic Paraplegia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.76

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 50, autosomal recessive, 612936

    Green AP4M1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spastic paraplegia 50, autosomal recessive, 612936 (3)

    Green AP4M1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Spastic paraplegia 50, autosomal recessive, MIM# 612936

    Amber AP4M1 in Neurodegeneration with brain iron accumulation


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.35

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • Literature
    Phenotypes
    • Spastic paraplegia 50, autosomal recessive, MIM# 612936

    Green AP4M1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Spastic paraplegia 50, autosomal recessive, MIM# 612936

    Green AP4M1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spastic paraplegia 50, autosomal recessive, 612936 (3)

    Red AP4M1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Spastic paraplegia 50, autosomal recessive, MIM# 612936