Osteopetrosis
Gene: AMER1
AMER1 (APC membrane recruitment protein 1)
EnsemblGeneIds (GRCh38): ENSG00000184675
EnsemblGeneIds (GRCh37): ENSG00000184675
OMIM: 300647, Gene2Phenotype
AMER1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000184675
EnsemblGeneIds (GRCh37): ENSG00000184675
OMIM: 300647, Gene2Phenotype
AMER1 is in 10 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Osteopetrosis is a differential diagnosis of osteopathia striata with cranial sclerosis.
Affected individuals present with sclerosis of cranial and long bones.Created: 2 Dec 2024, 2:36 a.m. | Last Modified: 2 Dec 2024, 2:36 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
osteopathia striata with cranial sclerosis MONDO:0010310
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 300647
- Clinvar variants
- Variants in AMER1
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AMER1 was added gene: AMER1 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AMER1 was set to Unknown