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Severe Paediatric Disorders

Gene: AMER1

Green List (high evidence)

AMER1 (APC membrane recruitment protein 1)
EnsemblGeneIds (GRCh38): ENSG00000184675
EnsemblGeneIds (GRCh37): ENSG00000184675
OMIM: 300647, Gene2Phenotype
AMER1 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: AMER1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Osteopathia striata with cranial sclerosis, 300373 (3); Mode of inheritance: X-linked dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteopathia striata with cranial sclerosis, 300373
OMIM
300647
Clinvar variants
Variants in AMER1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene AMER1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)