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  3. AMER1
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Wilms Tumour

Gene: AMER1

Red List (low evidence)
AMER1 (APC membrane recruitment protein 1)
EnsemblGeneIds (GRCh38): ENSG00000184675
EnsemblGeneIds (GRCh37): ENSG00000184675
OMIM: 300647, Gene2Phenotype
AMER1 is in 10 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Limited evidence for presentation with Wilms tumour in disease. Four cases of Wilms tumour in unrelated individuals with OSCS.
Sources: Expert list, Expert Review, Literature
Created: 26 Sep 2024, 1:41 a.m. | Last Modified: 26 Sep 2024, 1:43 a.m.
Panel Version: 0.34

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Wilms tumor, MONDO:0006058; Osteopathia striata with cranial sclerosis, MONDO:0010310; Osteopathia striata with cranial sclerosis. MIM#300373

Publications

Created: 26 Sep 2024, 1:41 a.m.
Last Modified: 26 Sep 2024, 1:43 a.m.
Panel version: 0.34

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
  • Expert Review Red
  • Literature
  • Expert Review
  • Expert list
Phenotypes
  • Wilms tumor, MONDO:0006058
  • Osteopathia striata with cranial sclerosis, MONDO:0010310
  • Osteopathia striata with cranial sclerosis. MIM#300373
OMIM
300647
Clinvar variants
Variants in AMER1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amer1 has been classified as Red List (Low Evidence).

26 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: AMER1 was added gene: AMER1 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: AMER1 were set to PMID: 32879452 Phenotypes for gene: AMER1 were set to Wilms tumor, MONDO:0006058; Osteopathia striata with cranial sclerosis, MONDO:0010310; Osteopathia striata with cranial sclerosis. MIM#300373 Review for gene: AMER1 was set to RED