| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.11 | ERI1 | Zornitza Stark Phenotypes for gene: ERI1 were changed from to Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.10 | ERI1 | Zornitza Stark reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.10 | ERI1 | Elena Savva Marked gene: ERI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.10 | ERI1 | Elena Savva Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.10 | ERI1 | Elena Savva Classified gene: ERI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.10 | ERI1 | Elena Savva Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.9 | ERI1 |
Elena Savva gene: ERI1 was added gene: ERI1 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Literature Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERI1 were set to 37352860 Review for gene: ERI1 was set to GREEN Added comment: PMID: 37352860 - 8 individuals from 7 unrelated families - Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly - Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly - Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive - Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells - K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense More severe phenotype hypothesised due to "exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy with ERI1, staying bound to those RNA molecules" Sources: Literature |
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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.8 |
Zornitza Stark HPO terms changed from to Multiple epiphyseal dysplasia, HP:0002654 List of related panels changed from to Multiple epiphyseal dysplasia; HP:0002654 |
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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 v0.4 | Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.3 | CANT1 | Tiong Tan Classified gene: CANT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 | CANT1 | Tiong Tan Gene: cant1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.2 | CANT1 | Tiong Tan Marked gene: CANT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.2 | CANT1 | Tiong Tan Gene: cant1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.2 | CANT1 | Tiong Tan reviewed gene: CANT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28742282; Phenotypes: Multiple epiphyseal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.2 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.1 | Tiong Tan Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.0 | CANT1 |
Tiong Tan gene: CANT1 was added gene: CANT1 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CANT1 were set to multiple epiphyseal dysplasia type 7, 617719.; Desbuquois dysplasia 1 251450 |
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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.0 | SLC26A2 |
Tiong Tan gene: SLC26A2 was added gene: SLC26A2 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A2 were set to Multiple Epiphyseal Dysplasia, Recessive; multiple epiphyseal dysplasia; Epiphyseal dysplasia, multiple, 4; ACG1B,DD,rMED |
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| 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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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.0 | MATN3 |
Tiong Tan gene: MATN3 was added gene: MATN3 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MATN3 were set to 16287128; 15121775; 16199550; 11479597; 30080953 Phenotypes for gene: MATN3 were set to Epiphyseal dysplasia, multiple, 5, 607078; Multiple Epiphyseal Dysplasia, Dominant; MED; multiple epiphyseal dysplasia; Disproportionate Short Stature; {Osteoarthritis susceptibility 2}, 140600; Spondyloepimetaphyseal dysplasia, 608728 |
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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.0 | COL9A3 |
Tiong Tan gene: COL9A3 was added gene: COL9A3 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL9A3 were set to Multiple Epiphyseal Dysplasia, Dominant; Mutiple Epiphyseal Dysplasia; Stickler syndrome type VI; multiple epiphyseal dysplasia 3, with or without myopathy - 600969; MED; multiple epiphyseal dysplasia; Epiphyseal dysplasia, multiple, with myopathy |
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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.0 | COL9A2 |
Tiong Tan gene: COL9A2 was added gene: COL9A2 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL9A2 were set to Epiphyseal dysplasia, multiple, 2 600204; Stickler syndrome, type V, 614284; Stickler syndrome, type V 614284; {Intervertebral disc disease, susceptibility to}, 603932 |
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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.0 | COMP |
Tiong Tan gene: COMP was added gene: COMP was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COMP were set to Pseudoachondroplasia 177170; Epiphyseal dysplasia, multiple, 1 132400 |
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| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.0 | Tiong Tan Added panel Multiple epiphyseal dysplasia and pseudoachondroplasia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||