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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.7 | COL9A1 | Ain Roesley Marked gene: COL9A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.7 | COL9A1 | Ain Roesley Gene: col9a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.7 | COL9A1 | Ain Roesley Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135 to Epiphyseal dysplasia, multiple, 6 614135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.6 | COL9A1 | Ain Roesley Publications for gene: COL9A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.5 | COL9A1 | Ain Roesley Classified gene: COL9A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.5 | COL9A1 | Ain Roesley Added comment: Comment on list classification: Too many hets in gnomAD for the variants reported thus far | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.5 | COL9A1 | Ain Roesley Gene: col9a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 | COL9A1 |
Paul De Fazio changed review comment from: Single family with a splice variant, predicted by the authors to result in in-frame exon skipping, reported in 2001 (PMID: 11565064). A second splice variant was reported in 2017 in an individual with a dual diagnosis of COL9A1 and ATRX (PMID: 27959697). The COL9A1 variant has 19 hets in gnomAD. No phenotypes given in the paper but the individual was reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/374336/evidence/). Heterozygous mice transfected with a COL9A1 intragenic deletion showed changes similiar to osteoarthritis, as do homozygous null mice (PMID: 8197187, 8464901); to: Single family with a splice variant, predicted by the authors to result in in-frame exon skipping, reported in 2001 (PMID: 11565064). Variant has 63 hets in gnomAD. A second splice variant was reported in 2017 in an individual with a dual diagnosis of COL9A1 and ATRX (PMID: 27959697). The COL9A1 variant has 19 hets in gnomAD. No phenotypes given in the paper but the individual was reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/374336/evidence/). Heterozygous mice transfected with a COL9A1 intragenic deletion showed changes similiar to osteoarthritis, as do homozygous null mice (PMID: 8197187, 8464901) |
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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 | COL9A1 | Paul De Fazio edited their review of gene: COL9A1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 | COL9A1 | Paul De Fazio edited their review of gene: COL9A1: Changed publications: 11565064, 27959697, 8197187, 8464901 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 | COL9A1 |
Paul De Fazio changed review comment from: Only a single family reported in 2001. No additional reports found.; to: Single family with a splice variant, predicted by the authors to result in in-frame exon skipping, reported in 2001 (PMID: 11565064). A second splice variant was reported in 2017 in an individual with a dual diagnosis of COL9A1 and ATRX (PMID: 27959697). The COL9A1 variant has 19 hets in gnomAD. No phenotypes given in the paper but the individual was reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/374336/evidence/). Heterozygous mice transfected with a COL9A1 intragenic deletion showed changes similiar to osteoarthritis, as do homozygous null mice (PMID: 8197187, 8464901) |
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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 | COL9A1 | Paul De Fazio reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: None; Publications: 11565064; Phenotypes: ?Epiphyseal dysplasia, multiple, 6, MIM#614135; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.0 | COL9A1 |
Tiong Tan gene: COL9A1 was added gene: COL9A1 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135 |
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