1. Panels
  2. Early-onset Dementia
  3. COL4A2
Regions in panel
Prev Next

Early-onset Dementia

Gene: COL4A2

Amber List (moderate evidence)
COL4A2 (collagen type IV alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 14 panels

1 review

Lynn Tan (Melbourne Health)

I don't know

PMID: 35699195
The frequency of cognitive features in COL4A2 was 27% [11/41 individuals from 22 pedigrees]. These 11 patients all had developmental delay.

PMID: 37272523
Ontario Neurodegenerative Disease Research Initiative (ONDRI) sample size 510: 8 patients with COL4A1/2 variants had Alzheimer's disease/mild cognitive impairment, 3 patients with COL4A1/2 variants had frontotemporal dementia

PMID: 36300346
UK Biobank cohort study (n = 454 756): 2 patients with COL4A1/2 variants had vascular dementia, 8 patients with COL4A1/2 variants had all-cause dementia

Dev delay vs early-onset dementia
PMID: 37272523 and PMID: 36300346 -combined cohort with both COL4A1 and COL4A2

Sources: Literature
Created: 30 Apr 2024, 4:38 a.m. | Last Modified: 30 Apr 2024, 4:38 a.m.
Panel Version: 1.14
PMID: 35699195
The frequency of cognitive features in COL4A2 was 27% [11/41 individuals from 22 pedigrees]. Developmental delay was present in over 80% of individuals with COL4A1/2 with cognitive features.

PMID: 37272523
Ontario Neurodegenerative Disease Research Initiative (ONDRI) sample size 510: 8 patients with COL4A1/2 variants had Alzheimer's disease/mild cognitive impairment, 3 patients with COL4A1/2 variants had frontotemporal dementia

PMID: 36300346
UK Biobank cohort study (n = 454 756): 2 patients with COL4A1/2 variants had vascular dementia, 8 patients with COL4A1/2 variants had all-cause dementia
Sources: Literature
Created: 30 Apr 2024, 1:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial porencephaly MONDO:0020496

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Apr 2024, 1:34 a.m.

Panel version: 1.14

History Filter Activity

4 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col4a2 has been classified as Amber List (Moderate Evidence).

2 May 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: col4a2 has been classified as Red List (Low Evidence).

2 May 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: col4a2 has been classified as Red List (Low Evidence).

30 Apr 2024, Gel status: 0

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

Lynn Tan (Melbourne Health)

gene: COL4A2 was added gene: COL4A2 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A2 were set to 35699195; 37272523; 36300346 Phenotypes for gene: COL4A2 were set to Familial porencephaly MONDO:0020496 Review for gene: COL4A2 was set to GREEN gene: COL4A2 was marked as current diagnostic