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  3. CAPN5
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Vitreoretinopathy

Gene: CAPN5

Green List (high evidence)
CAPN5 (calpain 5)
EnsemblGeneIds (GRCh38): ENSG00000149260
EnsemblGeneIds (GRCh37): ENSG00000149260
OMIM: 602537, Gene2Phenotype
CAPN5 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 6 Jan 2021, 10:32 a.m. | Last Modified: 6 Jan 2021, 10:32 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vitreoretinopathy, neovascular inflammatory, MIM# 193235

Publications

Created: 6 Jan 2021, 10:32 a.m.
Last Modified: 6 Jan 2021, 10:32 a.m.
Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vitreoretinopathy, neovascular inflammatory, MIM# 193235
OMIM
602537
Clinvar variants
Variants in CAPN5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: capn5 has been classified as Green List (High Evidence).

6 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CAPN5 were changed from to Vitreoretinopathy, neovascular inflammatory, MIM# 193235

6 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CAPN5 were set to

6 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CAPN5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Mar 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

gene: CAPN5 was added gene: CAPN5 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CAPN5 was set to Unknown