DDG2P
Gene: COL2A1
The DDG2P confidence category for the disease ACHONDROGENESIS TYPE 2, OMIM:200610 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 14729840;15054848;7757081;3195588;1429602;7829510;1374906). The DDG2P confidence category for the disease SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, OMIM:184250 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 16088915;8486375;7550321). The DDG2P confidence category for the disease STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, OMIM:609508 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17721977;15671297;16752401;15316962;8723097). The DDG2P confidence category for the disease SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, OMIM:183900 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 2543071;25060605;2339128;8423604;26626311;26358419;8325895;26443184). The DDG2P confidence category for the disease KNIEST DYSPLASIA, OMIM:156550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 26626311;7874117;7981752;7849719;26443184).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
ACHONDROGENESIS TYPE 2, OMIM:200610; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, OMIM:609508; KNIEST DYSPLASIA, OMIM:156550; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, OMIM:183900; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, OMIM:184250
Publications
Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ACHONDROGENESIS TYPE 2; KNIEST DYSPLASIA; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT;SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.Created: 19 Nov 2018, 1:43 p.m.
Multiple MOPs in DD-G2P download: all missense/in frame, dominant negative, loss of function, uncertain. Multiple ratings in DD-G2P download: Rated confirmed for KNIEST DYSPLASIA 156550, ACHONDROGENESIS TYPE 2 200610, PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508, SPONDYLOPERIPHERAL DYSPLASIA 271700, SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250, RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508 and SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900. Rated as possible for PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805.Created: 19 Nov 2018, 11:29 a.m.
Tag watchlist was removed from gene: COL2A1.
Publications for gene: COL2A1 were updated from 8325895; 2339128; 8423604; 2543071 to 14729840; 2339128; 3195588; 8723097; 1429602; 8325895; 15054848; 7849719; 7829510; 26443184; 2543071; 16088915; 8486375; 26626311; 8423604; 15671297; 26358419; 7757081; 7550321; 16752401; 1374906; 17721977; 7981752; 25060605; 7874117; 15316962
Rebecca Foulger: Multiple MOPs in DD-G2P downlo
Gene: col2a1 has been classified as Green List (High Evidence).
Tag watchlist tag was added to gene: COL2A1.
Added phenotypes SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900 for gene: COL2A1 Publications for gene COL2A1 were changed from 16752401; 17721977; 15671297 to 8325895; 2339128; 8423604; 2543071
Added phenotypes RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508 for gene: COL2A1 Publications for gene COL2A1 were changed from 7550321; 8486375; 16088915 to 16752401; 17721977; 15671297
Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250 for gene: COL2A1 Publications for gene COL2A1 were changed from 21671384; 15930420 to 7550321; 8486375; 16088915
Added phenotypes PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805 for gene: COL2A1 Publications for gene COL2A1 were changed from 8723097; 15316962 to 21671384; 15930420
Added phenotypes SPONDYLOPERIPHERAL DYSPLASIA 271700 for gene: COL2A1 Publications for gene COL2A1 were changed from 16752401; 17721977; 15671297 to 8723097; 15316962
Added phenotypes STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508 for gene: COL2A1 Publications for gene COL2A1 were changed from 14729840 to 16752401; 17721977; 15671297
Added phenotypes PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210 for gene: COL2A1 Publications for gene COL2A1 were changed from 1429602; 15054848; 1374906; 7829510; 3195588; 7757081 to 14729840
Added phenotypes ACHONDROGENESIS TYPE 2 200610 for gene: COL2A1 Publications for gene COL2A1 were changed from 7874117; 7849719; 7981752 to 1429602; 15054848; 1374906; 7829510; 3195588; 7757081
gene: COL2A1 was added gene: COL2A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL2A1 were set to 7874117; 7849719; 7981752 Phenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA 156550