Osteogenesis Imperfecta and Osteoporosis

Gene: ANO5

Green List (high evidence)

ANO5 (anoctamin 5)
EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ano5 has been classified as Green List (High Evidence).

30 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ano5 has been classified as Green List (High Evidence).

30 Aug 2021, Gel status: 1

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