Stickler syndrome
Gene: COL11A1Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type II, 604841;Retinitis pigmentosa 45, 613767;Achromatopsia-3, 262300{Autism susceptibility 15}, 612100;Marshall syndrome, 154780;{Lumbar disc herniation, susceptibility to}, 603932;Fibrochondrogenesis, 228520Created: 3 Mar 2021, 4:18 p.m. | Last Modified: 3 Mar 2021, 4:18 p.m.
Panel Version: 2.4
Comment when marking as ready: DDG2P: monoallelic, dominant negativeCreated: 17 Dec 2015, 12:59 p.m.
Splice site mutations and missense substitutions of Glycines within the repeating Gly-Xaa-Yaa amino acid sequence of the collagen are pathogenicCreated: 16 Oct 2015, 10:29 a.m.
There are rare biallelic recessive forms of Stickler syndrome type II and Marshall syndromeCreated: 16 Oct 2015, 8:23 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler type II; Marshall Syndrome; Fibrochondrogenesis
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780
Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841 to Stickler syndrome, type II, OMIM:604841
Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841; Retinitis pigmentosa 45, 613767; Achromatopsia-3, 262300{Autism susceptibility 15}, 612100; Marshall syndrome, 154780; {Lumbar disc herniation, susceptibility to}, 603932; Fibrochondrogenesis, 228520 to Stickler syndrome, type II, 604841
Phenotypes for COL11A1 were set to Stickler syndrome, type II, 604841; Retinitis pigmentosa 45, 613767; Achromatopsia-3, 262300{Autism susceptibility 15}, 612100; Marshall syndrome, 154780; {Lumbar disc herniation, susceptibility to}, 603932; Fibrochondrogenesis, 228520
Mode of inheritance for COL11A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for COL11A1 were set to 10573014; 23922384;20513134;8872475
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for COL11A1 were set to 10573014
COL11A1 was added to Stickler syndromepanel. Sources: Eligibility statement prior genetic testing
COL11A1 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory
COL11A1 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen