1. Panels
  2. Newborns main panel
  3. COL4A3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: COL4A3

Green List (high evidence)
COL4A3 (collagen type IV alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000169031
EnsemblGeneIds (GRCh37): ENSG00000169031
OMIM: 120070, Gene2Phenotype
COL4A3 is in 9 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
COL4A3 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
LOF variants are associated with AR Alport syndrome 2. Dominant-negative missense variants (such as Glycine substitutions in Gly-x-y triple helix domain) are associated with AD Alport syndrome 3.
Created: 10 Mar 2023, 11:03 a.m. | Last Modified: 10 Mar 2023, 11:03 a.m.
Panel Version: 0.41
Created: 10 Mar 2023, 11:03 a.m.
Last Modified: 10 Mar 2023, 11:03 a.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • COL4A3 related autosomal recessive Alport Syndrome
Tags
special_consideration
OMIM
120070
Clinvar variants
Variants in COL4A3
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: COL4A3.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COL4A3 were changed from Alport syndrome 2, autosomal recessive to COL4A3 related autosomal recessive Alport Syndrome

13 Dec 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only was removed from gene: COL4A3.

15 Nov 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: COL4A3.

15 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: col4a3 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 COL4A3. Added phenotypes Alport syndrome 2, autosomal recessive for gene: COL4A3 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 COL4A3. Added phenotypes Alport syndrome 2, autosomal recessive for gene: COL4A3 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 COL4A3. Added phenotypes Alport syndrome 2, autosomal recessive for gene: COL4A3 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 COL4A3. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: COL4A3 was added gene: COL4A3 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A3 were set to Alport syndrome 2, autosomal recessive