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Proteinuria

Gene: CD2AP

Green List (high evidence)
CD2AP (CD2 associated protein)
EnsemblGeneIds (GRCh38): ENSG00000198087
EnsemblGeneIds (GRCh37): ENSG00000198087
OMIM: 604241, Gene2Phenotype
CD2AP is in 4 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Comment on list classification: Definitive gene-disease assessment by ClinGen Glomerulopathy GCEP - classified 13/12/2021
Created: 4 Jul 2023, 11:57 p.m. | Last Modified: 4 Jul 2023, 11:57 p.m.
Panel Version: 0.216
Created: 4 Jul 2023, 11:57 p.m.
Last Modified: 4 Jul 2023, 11:57 p.m.
Panel version: 0.216

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

2 unrelated families with homozygous mutations (2007 and 2019), segregating with disease. Mouse model supports pathogenicity.
Created: 9 Jan 2020, 9:40 a.m. | Last Modified: 9 Jan 2020, 9:40 a.m.
Panel Version: 0.724

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glomerulosclerosis, focal segmental, 3, OMIM #607832

Publications

Created: 9 Jan 2020, 9:40 a.m.
Last Modified: 9 Jan 2020, 9:40 a.m.
Panel version: Imported from Mendeliome panel version 0.724

Chirag Patel (Genetic Health Queensland)

I don't know

2 unrelated families with homozygous mutations (2007 and 2019), segregating with disease. Mouse model supports pathogenicity.
Created: 9 Jan 2020, 3:32 a.m. | Last Modified: 9 Jan 2020, 3:32 a.m.
Panel Version: 0.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glomerulosclerosis, focal segmental, 3, OMIM #607832

Publications

Created: 9 Jan 2020, 3:32 a.m.
Last Modified: 9 Jan 2020, 3:32 a.m.
Panel version: 0.74

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917
OMIM
604241
Clinvar variants
Variants in CD2AP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jul 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: CD2AP were changed from focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917

5 Jul 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917

4 Jul 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CD2AP were set to 30612599; 17713465

4 Jul 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: CD2AP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

4 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cd2ap has been classified as Green List (High Evidence).

14 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd2ap has been classified as Amber List (Moderate Evidence).

14 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to Glomerulosclerosis, focal segmental, 3, OMIM #607832

14 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3, OMIM #607832

14 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD2AP were set to

14 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CD2AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: cd2ap has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD2AP was added gene: CD2AP was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CD2AP was set to Unknown