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Fetal anomalies

Gene: AMER1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae. In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations.

Well established gene-disease association, multiple families reported.
Created: 3 Nov 2021, 8:58 p.m. | Last Modified: 3 Nov 2021, 8:58 p.m.
Panel Version: 0.126

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
Osteopathia striata with cranial sclerosis, MIM# 300373

Publications

Created: 3 Nov 2021, 8:58 p.m.
Last Modified: 3 Nov 2021, 8:58 p.m.
Panel version: 0.126

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 Green
  • Genomics England PanelApp
Phenotypes
  • Osteopathia striata with cranial sclerosis, MIM# 300373
OMIM
300647
Clinvar variants
Variants in AMER1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amer1 has been classified as Green List (High Evidence).

3 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMER1 were changed from OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS to Osteopathia striata with cranial sclerosis, MIM# 300373

3 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AMER1 were set to 28425981

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AMER1 was added gene: AMER1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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 28425981 Phenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS