DDG2P
Gene: COL1A1

COL1A1 (collagen type I alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 12 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for COL1A1-related osteogenesis imperfecta spectrum are definitive, monoallelic_autosomal and dominant negative (PMIDs: 11286507, 12538651, 15024692, 15728585, 1613761, 1634225, 1737847, 1770532, 18409203, 1864604, 1874719, 1988452, 2037280, 21834035, 2295701, 2298750, 2309707, 2339700, 2500431, 2511192, 2794057, 2913053, 3082886, 3108247, 3403550, 3667599, 7789952, 7816518, 7881420, 8097422, 8100209, 8364588, 8408653, 8456809, 8723681, 8757037, 8786074, 8910493, 8950680, 9067755, 9295084). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00021. The DDG2P confidence category, allelic requirement and molecular mechanism for COL1A1-related Caffey disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 15864348, 34272483). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00575.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease COL1A1-RELATED OSTEOGENESIS IMPERFECTA, OMIM:166200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 1988452;9067755;2037280;9295084;3403550;8950680;2295701;7816518;8100209;12538651;8723681;3082886;2309707;2913053;1770532;15728585;21834035;11286507;15024692;2511192;8364588;8757037;8910493;8456809;7789952;2794057;18409203;8097422;8786074;1737847;3667599;1613761;2298750;3108247;1864604;7881420;8408653;2500431;1634225;1874719;2339700). The DDG2P confidence category for the disease CAFFEY DISEASE, OMIM:114000 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 34272483;15864348).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:166220.0; MONDO:0008148; CAFFEY DISEASE, OMIM:114000; MONDO:0007244; OMIM:114000.0; COL1A1-related Caffey disease; COL1A1-related osteogenesis imperfecta spectrum; COL1A1-RELATED OSTEOGENESIS IMPERFECTA, OMIM:166200

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: dominant negative, uncertain
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

CAFFEY DISEASE 114000
OSTEOGENESIS IMPERFECTA TYPE IIA 166210
OSTEOGENESIS IMPERFECTA TYPE III 259420
COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060
OSTEOGENESIS IMPERFECTA TYPE I 166200
EHLERS-DANLOS SYNDROME TYPE VIIA 319158

OMIM

120150

Clinvar variants

Variants in COL1A1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: COL1A1 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene COL1A1 was changed from Other - please provide details in the comments to Other Publications for gene: COL1A1 were updated from 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209 to 8097422; 2339700; 12538651; 8950680; 15728585; 8364588; 1864604; 15024692; 2037280; 7816518; 2794057; 1770532; 8910493; 3403550; 3108247; 1737847; 3082886; 2913053; 9295084; 1988452; 8100209; 8723681; 7881420; 2500431; 8757037; 2309707; 2511192; 1874719; 9067755; 34272483; 8456809; 15864348; 8786074; 3667599; 1634225; 7789952; 11286507; 21834035; 18409203; 2298750; 2295701; 1613761; 8408653

29 Jan 2019, Gel status: 4