DDG2P
Gene: ANO5

ANO5 (anoctamin 5)
EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 11 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 5:17 p.m.

Panel Version: 3.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 5:17 p.m.
Panel version: 3.12

Sarah Leigh (Genomics England Curator)

The mode of inheritance is in agreement with the entry for ANO5 on the Gene2Phenotype website https://www.ebi.ac.uk/gene2phenotype/search?panel=ALL&search_term=ANO5
Created: 29 Mar 2022, 3:17 p.m. | Last Modified: 29 Mar 2022, 3:17 p.m.

Panel Version: 2.65

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 29 Mar 2022, 3:17 p.m.
Last Modified: 29 Mar 2022, 3:17 p.m.
Panel version: 2.65

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.

Panel Version: 1.131

Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.

Panel Version: 1.76

Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L.
Created: 29 Jan 2019, 12:14 p.m.

Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:39 p.m.

Multiple MOPs in DD-G2P download: activating, loss of function. Multiple MOIs in DD-G2P download: monoallelic and biallelic. Multiple ratings in DD-G2P download: Rated both DD and IF for MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319 and GNATHODIAPHYSEAL DYSPLASIA 166260, and rated possible for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 1.131

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307
GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260

OMIM

608662

Clinvar variants

Variants in ANO5

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ANO5 were changed from LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 to LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ANO5 were changed from GNATHODIAPHYSEAL DYSPLASIA 166260; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307; MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319 to LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: ANO5.

4 Oct 2023, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene ANO5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Jul 2019, Gel status: 3