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Newborns main panel

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 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness

Additional Information: https://pubmed.ncbi.nlm.nih.gov/33854215/ - consensus molecular reporting guidelines for Alport genes (COL4A3–5)
Created: 1 Nov 2024, 11:42 a.m. | Last Modified: 1 Nov 2024, 11:42 a.m.
Panel Version: 0.469
Special Consideration: Internal inclusion list, LOF algorithm plus ClinVar/QIAGEN/CVA
Created: 25 Sep 2024, 4:02 p.m. | Last Modified: 25 Oct 2024, 10:42 a.m.
Panel Version: 0.469
Created: 25 Sep 2024, 4:02 p.m.
Last Modified: 25 Oct 2024, 10:42 a.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
COL4A5 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria - PubMed (nih.gov)
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
MOI reviewed by clinical team. Katrina Stone comment: from genereview Female heterozygotes for XLAS.Approximately 95% of heterozygotes exhibit persistent or intermittent microhematuria. Proteinuria develops in approximately 75% ofheterozygousfemales. Mafalda Gomes comment: LOF and missense glycines. There's also some cases with digenic inheritance with other COL genes.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.
Panel Version: 0.40

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

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • COL4A5 related X-linked Alport Syndrome
Tags
special_consideration
OMIM
303630
Clinvar variants
Variants in COL4A5
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: COL4A5.

14 Feb 2024, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

12 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL4A5 were changed from Alport syndrome 1, X-linked to COL4A5 related X-linked Alport Syndrome

13 Dec 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only was removed from gene: COL4A5.

15 Nov 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: COL4A5.

15 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

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

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to COL4A5. Added phenotypes Alport syndrome 1, X-linked for gene: COL4A5 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to COL4A5. Added phenotypes Alport syndrome 1, X-linked for gene: COL4A5 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to COL4A5. Added phenotypes Alport syndrome 1, X-linked for gene: COL4A5 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to COL4A5. Rating Changed from Amber List (moderate evidence) to No List (delete)

10 Mar 2023, Gel status: 2

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Alport syndrome 1, X-linked for gene: COL4A5

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: COL4A5 was added gene: COL4A5 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females