DDG2P
Gene: COL1A1
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
COL1A1-RELATED OSTEOGENESIS IMPERFECTA, OMIM:166200; CAFFEY DISEASE, OMIM:114000
Publications
Mode of pathogenicity
Other
Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: dominant negative, uncertainCreated: 19 Nov 2018, 11:29 a.m.
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
Rebecca Foulger: Original DDG2P rating: confirm
Added phenotypes COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210 for gene: COL1A1
Added phenotypes OSTEOGENESIS IMPERFECTA TYPE IIA 166210 for gene: COL1A1 Publications for gene COL1A1 were changed from 15864348 to 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209
Added phenotypes CAFFEY DISEASE 114000 for gene: COL1A1 Publications for gene COL1A1 were changed from 3082886; 18409203; 9295084 to 15864348
Added phenotypes EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060 for gene: COL1A1 Publications for gene COL1A1 were changed from 7789952; 8723681; 8456809; 8786074; 11286507; 1770532; 2794057; 2037280; 2511192; 8910493 to 3082886; 18409203; 9295084
Added phenotypes OSTEOGENESIS IMPERFECTA TYPE III 259420 for gene: COL1A1 Publications for gene COL1A1 were changed from 8757037; 15024692; 9067755; 8408653; 2295701; 2794057; 15728585; 1737847; 1988452; 1634225 to 7789952; 8723681; 8456809; 8786074; 11286507; 1770532; 2794057; 2037280; 2511192; 8910493
Added phenotypes OSTEOGENESIS IMPERFECTA TYPE I 166200 for gene: COL1A1 Publications for gene COL1A1 were changed from 3082886; 18409203; 9295084 to 8757037; 15024692; 9067755; 8408653; 2295701; 2794057; 15728585; 1737847; 1988452; 1634225
Added phenotypes EHLERS-DANLOS SYNDROME TYPE VIIA 319158 for gene: COL1A1
gene: COL1A1 was added gene: COL1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL1A1 were set to 3082886; 18409203; 9295084 Phenotypes for gene: COL1A1 were set to EHLERS-DANLOS SYNDROME TYPE VIIA 319158 Mode of pathogenicity for gene: COL1A1 was set to Other - please provide details in the comments