AMER1

APC membrane recruitment protein 1
OMIM: 300647, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green AMER1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.9
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • UKGTN
    Phenotypes
    • Osteopathia striata with cranial sclerosis 300373
    • Osteopathia striata with cranial sclerosis 300373
    Green AMER1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
    Green AMER1 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373
    Green AMER1 in Clefting


    Level 2: Musculoskeletal
    Version 7.3
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
    • OSCS
    • Cleft palate
    Green AMER1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Osteopathia striata with cranial sclerosis 300373
    Green AMER1 in Osteopetrosis


    Level 2: Musculoskeletal
    Version 2.1
    Latest signed off version: v2.0 (6 May 2026)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Osteopathia striata with cranial sclerosis OMIM:300373