Clefting
Gene: AMER1
AMER1 (APC membrane recruitment protein 1)
EnsemblGeneIds (GRCh38): ENSG00000184675
EnsemblGeneIds (GRCh37): ENSG00000184675
OMIM: 300647, Gene2Phenotype
AMER1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000184675
EnsemblGeneIds (GRCh37): ENSG00000184675
OMIM: 300647, Gene2Phenotype
AMER1 is in 6 panels
1 review
Helen Brittain (Genomics England Curator)
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; OSCS
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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
- OSCS
- Cleft palate
- OMIM
- 300647
- Clinvar variants
- Variants in AMER1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
13 Aug 2018, Gel status: 4
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to AMER1. Panel: Clefting Phenotypes for gene AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, OSCS, Cleft palate
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)AMER1 was created by ellenmcdonagh
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)AMER1 was added to Cleftingpanel. Sources: Expert Review Green