Limb girdle muscular dystrophy

Gene: ANO5

Green List (high evidence)

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

2 reviews

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

Phenotypes
Limb-girdle muscular dystrophy 2L

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:20 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gnathodiaphyseal dysplasia, 166260
  • Muscular dystrophy, limb-girdle, type 2L, 611307
  • Miyoshi muscular dystrophy 3, 613319
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Limb-girdle muscular dystrophy
OMIM
608662
Clinvar variants
Variants in ANO5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ANO5.

13 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ANO5. Rating Changed from Green List (high evidence) to Green List (high evidence)

13 May 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy to Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

27 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ANO5 were set to 20096397

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 3

Set publications

Ellen Thomas (Genomics England Curator)

Publications for ANO5 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ANO5 was added to Limb girdle muscular dystrophypanel. Sources: Eligibility statement prior genetic testing

28 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

28 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ANO5 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

28 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

28 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ANO5 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ANO5 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services