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| Corneal dystrophy v4.3 | PRDX3 | Eleanor Williams changed review comment from: The 'founder-effect' tag has been added as the same variant has been identified in multiple families from the same populations.; to: The 'founder-effect' tag has been added as the same variant has been identified in multiple families from the same ethnic background. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v4.3 | PRDX3 | Eleanor Williams commented on gene: PRDX3: The 'founder-effect' tag has been added as the same variant has been identified in multiple families from the same populations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v4.3 | PRDX3 | Eleanor Williams Tag founder-effect tag was added to gene: PRDX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v4.3 | PRDX3 | Eleanor Williams changed review comment from: Comment on list classification: There are 5 cases with heterozygous variants in this gene and a corneal dystrophy phenotype. However, the same variant was found in all cases, and all had Spanish ancestry. WES was only performed in one family, with targetted sequencing in the others. Therefore rating Amber until a second variant is found.; to: Comment on list classification: There are 5 cases with heterozygous variants in this gene and a corneal dystrophy phenotype. However, the same variant was found in all cases, and all had Spanish ancestry. WES was only performed in one family, with targetted sequencing in the others. Therefore rating Amber until further supporting evidence is reported, such as functional data, or cases with different ethnicities. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v4.3 | PRDX3 |
Eleanor Williams changed review comment from: Associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet in OMIM (OMIM:619871, AD). There are 5 cases with the same rare heterozygous missense variant in PRDX3 and punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) although the phenotype is variable. All cases are with Spanish ancestry and 3 of the cases were found to share the same mini-haplotype. PMID: 31782998 (2020) - 3 previously unreported Spanish families with PPPCD were examined. Through WES and Sanger sequencing 3 heterozygous variants were found to segregate with the disease in family 1 (6 affected, 4 unaffected): PDZD8 c.872+10A>T, OR2M5 c.773T>C, and PRDX3 c.568.G>C. Sanger sequencing of the smaller families 2 and 3 found the same PDZD8 c.872+10A>T and PRDX3 c.568G>C, (p.Asp190His) variants in affected individuals but not the OR2M5 variants. PDZD8 c.872+10A>T was found to affect splicing. An additional 2 families were then examined for these variants - family 4 was found to carry the PRDX3 c.568.G>C variant. No variants in the 3 genes were found in family 5. The same mini-haplotype was identified in the three previously unreported families (PPPCD families 1, 2, and 3) but not in PPPCD family 4, suggesting that the PRDX3 c.568G>C variant likely arose from a common ancestor in PPPCD families 1–3 and independently in PPPCD family 4. Affected individuals in families 1-4 presented with localization of opacities to the pre-Descemetic posterior stroma. In family 5, affected members presented an atypical PPPCD phenotype with opacities distributed through all levels of the corneal stroma. The authors conclude that since both PRDX3 c.568G>C and PDZD8 c.872+10A>T were identified in PPCD families 1–3 that likely share a common ancestor, but the novel PRDX3 c.568G>C variant was also found in a fourth unrelated PPPCD pedigree, PRDX3 is likely the causative gene for PPPCD. PMID: 34369396 (2022) 38 year old Spanish woman with bilateral polychromatic deposits diffusely distributed in the posterior stroma of each cornea, just anterior to Descemet membrane, as well as beneath the anterior lens capsule in each eye. Her father was also affected. Sequencing of PRDX3 and PDZD8 identified the heterozygous in the proband revealed the PRDX3 c.568G>C variant but not the PDZD8 c.872+10A>T intronic variant. Sources: Literature; to: Associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet in OMIM (OMIM:619871, AD). There are 5 cases with the same rare heterozygous missense variant in PRDX3 and punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) although the phenotype is variable. All cases are with Spanish ancestry and 3 of the cases were found to share the same mini-haplotype. PMID: 31782998 (2020) - 3 previously unreported Spanish families with PPPCD were examined. Through WES and Sanger sequencing 3 heterozygous variants were found to segregate with the disease in family 1 (6 affected, 4 unaffected): PDZD8 c.872+10A>T, OR2M5 c.773T>C, and PRDX3 c.568.G>C. Sanger sequencing of the smaller families 2 and 3 found the same PDZD8 c.872+10A>T and PRDX3 c.568G>C, (p.Asp190His) variants in affected individuals but not the OR2M5 variants. PDZD8 c.872+10A>T was found to affect splicing. An additional 2 families were then examined for these variants - family 4 was found to carry the PRDX3 c.568.G>C variant. No variants in the 3 genes were found in family 5. The same mini-haplotype was identified in the three previously unreported families (PPPCD families 1, 2, and 3) but not in PPPCD family 4, suggesting that the PRDX3 c.568G>C variant likely arose from a common ancestor in PPPCD families 1–3 and independently in PPPCD family 4. Affected individuals in families 1-4 presented with localization of opacities to the pre-Descemetic posterior stroma. In family 5, affected members presented an atypical PPPCD phenotype with opacities distributed through all levels of the corneal stroma. The authors conclude that since both PRDX3 c.568G>C and PDZD8 c.872+10A>T were identified in PPCD families 1–3 that likely share a common ancestor, but since the novel PRDX3 c.568G>C variant was also found in a fourth unrelated PPPCD pedigree, PRDX3 is likely the causative gene for PPPCD. PMID: 34369396 (2022) 38 year old Spanish woman with bilateral polychromatic deposits diffusely distributed in the posterior stroma of each cornea, just anterior to Descemet membrane, as well as beneath the anterior lens capsule in each eye. Her father was also affected. Sequencing of PRDX3 and PDZD8 in the proband revealed the heterozygous PRDX3 c.568G>C variant but not the PDZD8 c.872+10A>T intronic variant. Sources: Literature |
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| Corneal dystrophy v4.3 | PRDX3 |
Eleanor Williams changed review comment from: Associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet in OMIM (OMIM:619871, AD). There are 5 cases with the same heterozygous missense variant in PRDX3 and punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) although the phenotype is variable. All cases are with Spanish ancestry and 3 of the cases were found to share the same mini-haplotype. PMID: 31782998 (2020) - 3 previously unreported Spanish families with PPPCD were examined. Through WES and Sanger sequencing 3 heterozygous variants were found to segregate with the disease in family 1 (6 affected, 4 unaffected): PDZD8 c.872+10A>T, OR2M5 c.773T>C, and PRDX3 c.568.G>C. Sanger sequencing of the smaller families 2 and 3 found the same PDZD8 c.872+10A>T and PRDX3 c.568G>C, (p.Asp190His) variants in affected individuals but not the OR2M5 variants. PDZD8 c.872+10A>T was found to affect splicing. An additional 2 families were then examined for these variants - family 4 was found to carry the PRDX3 c.568.G>C variant. Variants in the 3 genes were not found in family 4. The same mini-haplotype was identified in the three previously unreported families (PPPCD families 1, 2, and 3) but not in PPPCD family 4, suggesting that the PRDX3 c.568G>C variant likely arose from a common ancestor in PPPCD families 1–3 and independently in PPPCD family 4. Affected individuals in families 1-4 presented with localization of opacities to the pre-Descemetic posterior stroma. In family 5, affected members presented an atypical PPPCD phenotype with opacities distributed through all levels of the corneal stroma. The authors conclude that since both PRDX3 c.568G>C and PDZD8 c.872+10A>T were identified in PPCD families 1–3 that likely share a common ancestor, but the novel PRDX3 c.568G>C variant was also found in a fourth unrelated PPPCD pedigree, PRDX3 is likely the causative gene for PPPCD. PMID: 34369396 (2022) 38 year old Spanish woman with bilateral polychromatic deposits diffusely distributed in the posterior stroma of each cornea, just anterior to Descemet membrane, as well as beneath the anterior lens capsule in each eye. Her father was also affected. Sequencing of PRDX3 and PDZD8 identified the heterozygous in the proband revealed the PRDX3 c.568G>C variant but not the PDZD8 c.872+10A>T intronic variant. Sources: Literature; to: Associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet in OMIM (OMIM:619871, AD). There are 5 cases with the same rare heterozygous missense variant in PRDX3 and punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) although the phenotype is variable. All cases are with Spanish ancestry and 3 of the cases were found to share the same mini-haplotype. PMID: 31782998 (2020) - 3 previously unreported Spanish families with PPPCD were examined. Through WES and Sanger sequencing 3 heterozygous variants were found to segregate with the disease in family 1 (6 affected, 4 unaffected): PDZD8 c.872+10A>T, OR2M5 c.773T>C, and PRDX3 c.568.G>C. Sanger sequencing of the smaller families 2 and 3 found the same PDZD8 c.872+10A>T and PRDX3 c.568G>C, (p.Asp190His) variants in affected individuals but not the OR2M5 variants. PDZD8 c.872+10A>T was found to affect splicing. An additional 2 families were then examined for these variants - family 4 was found to carry the PRDX3 c.568.G>C variant. No variants in the 3 genes were found in family 5. The same mini-haplotype was identified in the three previously unreported families (PPPCD families 1, 2, and 3) but not in PPPCD family 4, suggesting that the PRDX3 c.568G>C variant likely arose from a common ancestor in PPPCD families 1–3 and independently in PPPCD family 4. Affected individuals in families 1-4 presented with localization of opacities to the pre-Descemetic posterior stroma. In family 5, affected members presented an atypical PPPCD phenotype with opacities distributed through all levels of the corneal stroma. The authors conclude that since both PRDX3 c.568G>C and PDZD8 c.872+10A>T were identified in PPCD families 1–3 that likely share a common ancestor, but the novel PRDX3 c.568G>C variant was also found in a fourth unrelated PPPCD pedigree, PRDX3 is likely the causative gene for PPPCD. PMID: 34369396 (2022) 38 year old Spanish woman with bilateral polychromatic deposits diffusely distributed in the posterior stroma of each cornea, just anterior to Descemet membrane, as well as beneath the anterior lens capsule in each eye. Her father was also affected. Sequencing of PRDX3 and PDZD8 identified the heterozygous in the proband revealed the PRDX3 c.568G>C variant but not the PDZD8 c.872+10A>T intronic variant. Sources: Literature |
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| Corneal dystrophy v4.3 | PRDX3 | Eleanor Williams Classified gene: PRDX3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v4.3 | PRDX3 | Eleanor Williams Added comment: Comment on list classification: There are 5 cases with heterozygous variants in this gene and a corneal dystrophy phenotype. However, the same variant was found in all cases, and all had Spanish ancestry. WES was only performed in one family, with targetted sequencing in the others. Therefore rating Amber until a second variant is found. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v4.3 | PRDX3 | Eleanor Williams Gene: prdx3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v4.2 | PRDX3 |
Eleanor Williams gene: PRDX3 was added gene: PRDX3 was added to Corneal dystrophy. Sources: Literature Mode of inheritance for gene: PRDX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRDX3 were set to 31782998; 34369396 Phenotypes for gene: PRDX3 were set to Corneal dystrophy, punctiform and polychromatic pre-Descemet, OMIM:619871; corneal dystrophy, punctiform and polychromatic pre-descemet, MONDO:0859248 Review for gene: PRDX3 was set to AMBER Added comment: Associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet in OMIM (OMIM:619871, AD). There are 5 cases with the same heterozygous missense variant in PRDX3 and punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) although the phenotype is variable. All cases are with Spanish ancestry and 3 of the cases were found to share the same mini-haplotype. PMID: 31782998 (2020) - 3 previously unreported Spanish families with PPPCD were examined. Through WES and Sanger sequencing 3 heterozygous variants were found to segregate with the disease in family 1 (6 affected, 4 unaffected): PDZD8 c.872+10A>T, OR2M5 c.773T>C, and PRDX3 c.568.G>C. Sanger sequencing of the smaller families 2 and 3 found the same PDZD8 c.872+10A>T and PRDX3 c.568G>C, (p.Asp190His) variants in affected individuals but not the OR2M5 variants. PDZD8 c.872+10A>T was found to affect splicing. An additional 2 families were then examined for these variants - family 4 was found to carry the PRDX3 c.568.G>C variant. Variants in the 3 genes were not found in family 4. The same mini-haplotype was identified in the three previously unreported families (PPPCD families 1, 2, and 3) but not in PPPCD family 4, suggesting that the PRDX3 c.568G>C variant likely arose from a common ancestor in PPPCD families 1–3 and independently in PPPCD family 4. Affected individuals in families 1-4 presented with localization of opacities to the pre-Descemetic posterior stroma. In family 5, affected members presented an atypical PPPCD phenotype with opacities distributed through all levels of the corneal stroma. The authors conclude that since both PRDX3 c.568G>C and PDZD8 c.872+10A>T were identified in PPCD families 1–3 that likely share a common ancestor, but the novel PRDX3 c.568G>C variant was also found in a fourth unrelated PPPCD pedigree, PRDX3 is likely the causative gene for PPPCD. PMID: 34369396 (2022) 38 year old Spanish woman with bilateral polychromatic deposits diffusely distributed in the posterior stroma of each cornea, just anterior to Descemet membrane, as well as beneath the anterior lens capsule in each eye. Her father was also affected. Sequencing of PRDX3 and PDZD8 identified the heterozygous in the proband revealed the PRDX3 c.568G>C variant but not the PDZD8 c.872+10A>T intronic variant. Sources: Literature |
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