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Skeletal dysplasia

Gene: ANO5

Green List (high evidence)

ANO5 (anoctamin 5)
EnsemblGeneIds (GRCh38): ENSG00000171714
EnsemblGeneIds (GRCh37): ENSG00000171714
OMIM: 608662, Gene2Phenotype
ANO5 is in 12 panels

5 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Loss of function is the mechanism of disease for muscular dystrophy and gain of function is the mechanism of disease for skeletal dysplasia. Note MOI is mono-allelic for the skeletal dysplasia.
Created: 9 Jun 2020, 10:22 a.m. | Last Modified: 9 Jun 2020, 10:22 a.m.
Panel Version: 2.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Gnathodiaphyseal dysplasia, MIM# 166260

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

OI and decreasing bone density gp of SD, disorganized development of skeletal components gp of SD - gene previously called TMEM16E. >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gnatodiaphyseal dysplasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Disproportionate Short Stature

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: Leaving the mode of inheritance at BIALLELIC just now, but it should be changed to MONOALLELIC at the next GMS review.
Created: 20 Jan 2021, 6:39 p.m. | Last Modified: 20 Jan 2021, 6:39 p.m.
Panel Version: 2.62
Comment on mode of pathogenicity: The missense variants seen in patients with Gnathodiaphyseal dysplasia are thought to act by gain-of-function
Created: 20 Jan 2021, 6:37 p.m. | Last Modified: 20 Jan 2021, 6:37 p.m.
Panel Version: 2.59
Associated with Gnathodiaphyseal dysplasia #166260 in OMIM with an autosomal dominant mode of inheritance. Two types of muscular dystrophy are listed with a autosomal recessive mode of inheritance.

ANO5 is also known as GDD1 and TMEM16E.

PMID: 15124103 - Tsutsumi et al 2004 - identified two heterozygous missense mutations (C356R and C356G) in ANO5/GDD1 in probands from a Japanese and an African American family with gnathodiaphyseal dysplasia.

PMID: 23047743 - Marconi et al 2013 - sequenced the ANO5 gene in a large Italian family with gnathodiaphyseal dysplasia. They identified a novel heterozygous missense mutation c.1538C-T, T513I. The mutation segregates with the disease in the family.

PMID: 32112655 - Di Zanni et al 2020 - used HEK293‐based functional assays to investigate the effects of a series of amino acid exchanges, related either to MD or GDD, at the level of the TMEM16E protein. They find a loss of TMEM16E activity for those associated with MD, and a gain‐of‐function phenotype for seven GDD‐causing mutations.
Created: 20 Jan 2021, 6:35 p.m. | Last Modified: 20 Jan 2021, 6:35 p.m.
Panel Version: 2.58
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ANO5; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

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

Phenotypes
Gnathodiaphyseal dysplasia OMIM:166260; gnathodiaphyseal dysplasia MONDO:0008151

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 13 Jul 2016, 7:37 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:28 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gnathodiaphyseal dysplasia 166260; Miyoshi muscular dystrophy 3 613319; Muscular dystrophy, limb-girdle, type 2L 611307

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Gnathodiaphyseal dysplasia OMIM:166260
  • gnathodiaphyseal dysplasia MONDO:0008151
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • skeletal dysplasias
  • Disproportionate Short Stature
OMIM
608662
Clinvar variants
Variants in ANO5
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

20 Jan 2021, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Jan 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ANO5 were changed from Gnatodiaphyseal dysplasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; skeletal dysplasias; Disproportionate Short Stature to Gnathodiaphyseal dysplasia OMIM:166260; gnathodiaphyseal dysplasia MONDO:0008151; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; skeletal dysplasias; Disproportionate Short Stature

20 Jan 2021, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ANO5 were set to

20 Jan 2021, Gel status: 3

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for gene: ANO5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Gnatodiaphyseal dysplasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Disproportionate Short Stature for gene: ANO5

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ANO5. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

13 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ANO5 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ANO5 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory ANO5 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ANO5 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ANO5 was added to Unexplained skeletal dysplasiapanel. Sources: