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| Monogenic hearing loss v6.15 | DSPP | Ida Ertmanska commented on gene: DSPP: Comment on list classification: There is limited and conflicting evidence regarding the association between DSPP variants and dominant hearing loss. There are 3 Chinese families reported with DSPP missense variants and hearing loss, including one pedigree with a common likely benign variant. The other two families had both dentinogenesis imperfecta and hearing loss, and harboured the same DSPP variant detected by linkage analysis/targeted DSPP seq - another gene likely responsible for hearing loss. In addition, numerous other cases with 59+ different DSPP variants have been reported in literature with isolated dentinogenesis imperfecta. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.15 | DSPP | Ida Ertmanska Phenotypes for gene: DSPP were changed from Deafness, autosomal dominant 39, with dentinogenesis, OMIM:605594; Dentin dysplasia, type II, OMIM:125420; Dentinogenesis imperfecta, Shields type II, OMIM:125490; Dentinogenesis imperfecta, Shields type III, OMIM:125500 to Deafness, autosomal dominant 39, with dentinogenesis, OMIM:605594; Dentin dysplasia, type II, OMIM:125420; Dentinogenesis imperfecta, Shields type II, OMIM:125490; Dentinogenesis imperfecta, Shields type III, OMIM:125500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.15 | DSPP | Ida Ertmanska Phenotypes for gene: DSPP were changed from hearing loss; Dentinogenesis imperfecta, Shields type II, 125490; Deafness, autosomal dominant 36, with dentinogenesis, 605594; Dentinogenesis imperfecta, Shields type III, 125500; Dentin dysplasia, type II, 125420; Dentin dysplasia, type II,1254203 to Deafness, autosomal dominant 39, with dentinogenesis, OMIM:605594; Dentin dysplasia, type II, OMIM:125420; Dentinogenesis imperfecta, Shields type II, OMIM:125490; Dentinogenesis imperfecta, Shields type III, OMIM:125500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.14 | DSPP | Ida Ertmanska Publications for gene: DSPP were set to PMID:10706475; 11116156; 11175770; 11175779; 11175790; 12354781; 12721295; 14758537; 15592686; 15954904; 17210923; 18456718; 22392858; 22582013; 2433419; 2462619; 7573043; 8995371; 9533027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.13 | DSPP | Ida Ertmanska Tag Q2_26_demote_red tag was added to gene: DSPP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.13 | DSPP | Ida Ertmanska edited their review of gene: DSPP: Changed publications to: 11175790, 17686168, 29741433, 33229591, 39806231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.13 | DSPP |
Ida Ertmanska changed review comment from: PMID: 11175790 Xiao et al., 2001 2 Chinese families with sensorineural hearing loss and dentinogenesis imperfecta (DI), both het for DSPP variant c.49C>A (p.Pro17Thr). Method: linkage analysis, followed by DSPP sequencing. PMID: 17686168 Chinese family with DI and the same DSPP residue mutated as in PMID: 11175790 (c.49C>T, p.Pro17Ser), and no hearing loss. PMID: 29741433 Li ey al., 2018 Proband with Familial nonsyndromic hearing loss (NSHL) with incomplete partition type II, harboured DSPP c.3085A>G, p.Asn1029Asp and c.3087C>T, p.Asn1029= variants in cis. Method: WGS of proband and 7 family members. 3 affected individuals: father and his two male sons (twins), all with the same DSPP allele. Both DSPP variants have high gnomAD frequencies in East Asian population (0.01039 and 0.009011), with homozygous individuals also reported; p.Asn1029Asp is Likely Benign in ClinVar - unlikely to be causal. PMID: 33229591 Boucher et al., 2020 Age-related hearing loss cohort. Patient 6708 - harboured a c.776C > T; p.(Ser259Phe) variant in DSPP. Hearing loss has not been mentioned as a feature in numerous other cases with DSPP variants and DI (59 variants reported in literature according to PMID: 39806231 Gilani, Saikia, and Anthonappa, 2025).; to: PMID: 11175790 Xiao et al., 2001 2 Chinese families with sensorineural hearing loss and dentinogenesis imperfecta (DI), both het for DSPP variant c.49C>A (p.Pro17Thr). Method: linkage analysis, followed by DSPP sequencing. PMID: 17686168 Chinese family with DI and the same DSPP residue mutated as in PMID: 11175790 (c.49C>T, p.Pro17Ser), and no hearing loss. PMID: 29741433 Li et al., 2018 Chinese proband with Familial nonsyndromic hearing loss (NSHL) with incomplete partition type II, harboured DSPP c.3085A>G, p.Asn1029Asp and c.3087C>T, p.Asn1029= variants in cis. Method: WGS of proband and 7 family members. 3 affected individuals: father and his two male sons (twins), all with the same DSPP allele. Both DSPP variants have high gnomAD frequencies in East Asian population (0.01039 and 0.009011), with homozygous individuals also reported; p.Asn1029Asp is Likely Benign in ClinVar - unlikely to be causal. PMID: 33229591 Boucher et al., 2020 Age-related hearing loss cohort. Patient 6708 - harboured a c.776C > T; p.(Ser259Phe) variant in DSPP. Hearing loss has not been mentioned as a feature in numerous other cases with DSPP variants and DI (59 variants reported in literature according to PMID: 39806231 Gilani, Saikia, and Anthonappa, 2025). |
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| Monogenic hearing loss v6.13 | DSPP |
Ida Ertmanska changed review comment from: PMID: 11175790 Xiao et al., 2001 2 Chinese families with sensorineural hearing loss and dentinogenesis imperfecta (DI). Hearing loss has not been reported in any other cases with DSPP variants and DI (59 variants reported in literature according to PMID: 39806231 Gilani, Saikia, and Anthonappa, 2025); to: PMID: 11175790 Xiao et al., 2001 2 Chinese families with sensorineural hearing loss and dentinogenesis imperfecta (DI), both het for DSPP variant c.49C>A (p.Pro17Thr). Method: linkage analysis, followed by DSPP sequencing. PMID: 17686168 Chinese family with DI and the same DSPP residue mutated as in PMID: 11175790 (c.49C>T, p.Pro17Ser), and no hearing loss. PMID: 29741433 Li ey al., 2018 Proband with Familial nonsyndromic hearing loss (NSHL) with incomplete partition type II, harboured DSPP c.3085A>G, p.Asn1029Asp and c.3087C>T, p.Asn1029= variants in cis. Method: WGS of proband and 7 family members. 3 affected individuals: father and his two male sons (twins), all with the same DSPP allele. Both DSPP variants have high gnomAD frequencies in East Asian population (0.01039 and 0.009011), with homozygous individuals also reported; p.Asn1029Asp is Likely Benign in ClinVar - unlikely to be causal. PMID: 33229591 Boucher et al., 2020 Age-related hearing loss cohort. Patient 6708 - harboured a c.776C > T; p.(Ser259Phe) variant in DSPP. Hearing loss has not been mentioned as a feature in numerous other cases with DSPP variants and DI (59 variants reported in literature according to PMID: 39806231 Gilani, Saikia, and Anthonappa, 2025). |
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| Monogenic hearing loss v6.13 | DSPP | Ida Ertmanska reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: 11175790, 39806231; Phenotypes: Deafness, autosomal dominant 39, with dentinogenesis, OMIM:605594, Dentin dysplasia, type II, OMIM:125420, Dentinogenesis imperfecta, Shields type II, OMIM:125490, Dentinogenesis imperfecta, Shields type III, OMIM:125500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||