Osteogenesis Imperfecta and Osteoporosis
Gene: ANO5EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Bone fragility is a feature of the condition, which is an overlapping feature with OI and could be a differential diagnosis. >3 families/probands and a null mouse model reported.
Sources: Expert listCreated: 30 Aug 2021, 2:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gnathodiaphyseal dysplasia MIM#166260
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Gnathodiaphyseal dysplasia MIM#166260
- OMIM
- 608662
- Clinvar variants
- Variants in ANO5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ano5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ano5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ANO5 was added gene: ANO5 was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANO5 were set to 30712070; 15124103; 30641283; 29175271 Phenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia MIM#166260 Review for gene: ANO5 was set to GREEN gene: ANO5 was marked as current diagnostic