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Newborns main panel

Gene: COL4A4

Green List (high evidence)
COL4A4 (collagen type IV alpha 4 chain)
EnsemblGeneIds (GRCh38): ENSG00000081052
EnsemblGeneIds (GRCh37): ENSG00000081052
OMIM: 120131, Gene2Phenotype
COL4A4 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
COL4A4 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
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • COL4A4 related autosomal recessive Alport Syndrome
Tags
special_consideration
OMIM
120131
Clinvar variants
Variants in COL4A4
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: COL4A4.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COL4A4 were changed from Alport syndrome 2, autosomal recessive to COL4A4 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: COL4A4.

15 Nov 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: COL4A4.

15 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: col4a4 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 COL4A4. Added phenotypes Alport syndrome 2, autosomal recessive for gene: COL4A4 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 COL4A4. Added phenotypes Alport syndrome 2, autosomal recessive for gene: COL4A4 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to COL4A4. Mode of inheritance for gene COL4A4 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Alport syndrome 2, autosomal recessive for gene: COL4A4 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 COL4A4. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Alport syndrome 2, autosomal recessive for gene: COL4A4

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: COL4A4 was added gene: COL4A4 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: COL4A4 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal