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  3. COL4A5
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Deafness_IsolatedAndComplex

Gene: COL4A5

Green List (high evidence)
COL4A5 (collagen type IV alpha 5 chain)
EnsemblGeneIds (GRCh38): ENSG00000188153
EnsemblGeneIds (GRCh37): ENSG00000188153
OMIM: 303630, Gene2Phenotype
COL4A5 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, deafness is a key feature.
Created: 28 Sep 2020, 8:43 p.m. | Last Modified: 28 Sep 2020, 8:43 p.m.
Panel Version: 0.438

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Alport syndrome 1, X-linked, MIM# 301050

Created: 28 Sep 2020, 8:43 p.m.
Last Modified: 28 Sep 2020, 8:43 p.m.
Panel version: 0.438

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Alport syndrome 1, X-linked, MIM# 301050
OMIM
303630
Clinvar variants
Variants in COL4A5
Penetrance
None
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col4a5 has been classified as Green List (High Evidence).

28 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL4A5 were changed from to Alport syndrome 1, X-linked, MIM# 301050

28 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL4A5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL4A5 was added gene: COL4A5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: COL4A5 was set to Unknown