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Fetal anomalies

Gene: ANO5

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Melita Irving. Outcome of review: gnathodiaphyseal dysplasia seemed unlikely to present in a fetus, therefore Red.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
Changed rating to 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 in DD-G2P.
Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'Both DD and IF' for both MIYOSHI MUSCULAR DYSTROPHY TYPE 3 and GNATHODIAPHYSEAL DYSPLASIA.
Created: 6 Dec 2018, 9:42 a.m.
In the original PAGE file, MOP listed as LOF for MIYOSHI MUSCULAR DYSTROPHY TYPE 3, and Activating for GNATHODIAPHYSEAL DYSPLASIA.
Created: 8 Nov 2018, 4:45 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MIYOSHI MUSCULAR DYSTROPHY TYPE 3
  • GNATHODIAPHYSEAL DYSPLASIA
OMIM
608662
Clinvar variants
Variants in ANO5
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to ANO5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

12 Feb 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to ANO5. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GNATHODIAPHYSEAL DYSPLASIA for gene: ANO5

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ANO5 was added gene: ANO5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ANO5 were set to MIYOSHI MUSCULAR DYSTROPHY TYPE 3