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| Ectodermal dysplasia v4.23 | MSX1 | Ida Ertmanska Phenotypes for gene: MSX1 were changed from Ectodermal dysplasia 3, Witkop type, OMIM:189500 to Ectodermal dysplasia 3, Witkop type, OMIM:189500; Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.22 | MSX1 | Ida Ertmanska Publications for gene: MSX1 were set to 24031111; 11369996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.21 | MSX1 | Ida Ertmanska Tag Q1_26_MOI tag was added to gene: MSX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.21 | MSX1 | Ida Ertmanska commented on gene: MSX1: Comment on mode of inheritance: There are 3 unrelated pedigrees reported in literature where affected individuals presented with tooth agenesis and/or nail dysplasia, harbouring biallelic variants in MSX1. However, the c*6C>T variant (present in 2/3 cases) is too common to cause a Mendelian disorder. In addition, all 3 studies used direct MSX1 sequencing. As such, the influence of other genes cannot be excluded. Due to scarce and conflicting evidence for recessive Ectodermal dysplasia, the MOI should be changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.21 | MSX1 |
Ida Ertmanska changed review comment from: BIALLELIC CASE REPORTS: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). Only MSX1 was sequenced in all patients. PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia (Witkop syndrome). Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. Analysed two coding exons, exon-intron boundaries, and part of 3’-UTR of MSX1 only. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. Method: linkage analysis in the pedigree followed by direct MSX1 sequencing. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026). ClinGen Expert Panels have classified the link between MSX1 and AD tooth agenesis, selective, 1 as Definitive (Feb 2024), but AD tooth and nail syndrome has been classified as Disputed (Oct 2023).; to: BIALLELIC CASE REPORTS: PMID: 25565750 Ceyhan et al., 2014 Report of Turkish cases with non-syndromic tooth agenesis and other dental anomalies: 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). Only MSX1 was sequenced in all patients. PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia (Witkop syndrome). Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. Analysed two coding exons, exon-intron boundaries, and part of 3’-UTR of MSX1 only. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. Method: linkage analysis in the pedigree followed by direct MSX1 sequencing. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026). ClinGen Expert Panels have classified the link between MSX1 and AD tooth agenesis, selective, 1 as Definitive (Feb 2024), but AD tooth and nail syndrome has been classified as Disputed (Oct 2023). |
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| Ectodermal dysplasia v4.21 | MSX1 |
Ida Ertmanska changed review comment from: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). Only MSX1 was sequenced in all patients. PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia (Witkop syndrome). Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. Analysed two coding exons, exon-intron boundaries, and part of 3’-UTR of MSX1 only. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. Method: linkage analysis in the pedigree followed by direct MSX1 sequencing. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026). ClinGen Expert Panels have classified the link between MSX1 and AD tooth agenesis, selective, 1 as Definitive (Feb 2024), but AD tooth and nail syndrome has been classified as Disputed (Oct 2023).; to: BIALLELIC CASE REPORTS: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). Only MSX1 was sequenced in all patients. PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia (Witkop syndrome). Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. Analysed two coding exons, exon-intron boundaries, and part of 3’-UTR of MSX1 only. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. Method: linkage analysis in the pedigree followed by direct MSX1 sequencing. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026). ClinGen Expert Panels have classified the link between MSX1 and AD tooth agenesis, selective, 1 as Definitive (Feb 2024), but AD tooth and nail syndrome has been classified as Disputed (Oct 2023). |
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| Ectodermal dysplasia v4.21 | MSX1 |
Ida Ertmanska changed review comment from: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). Only MSX1 was sequenced in all patients. PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia (Witkop syndrome). Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. Analysed two coding exons, exon-intron boundaries, and part of 3’-UTR of MSX1 only. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. Method: linkage analysis in the pedigree followed by direct MSX1 sequencing. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026).; to: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). Only MSX1 was sequenced in all patients. PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia (Witkop syndrome). Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. Analysed two coding exons, exon-intron boundaries, and part of 3’-UTR of MSX1 only. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. Method: linkage analysis in the pedigree followed by direct MSX1 sequencing. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026). ClinGen Expert Panels have classified the link between MSX1 and AD tooth agenesis, selective, 1 as Definitive (Feb 2024), but AD tooth and nail syndrome has been classified as Disputed (Oct 2023). |
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| Ectodermal dysplasia v4.21 | MSX1 |
Ida Ertmanska changed review comment from: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia (Witkop syndrome). Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026).; to: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). Only MSX1 was sequenced in all patients. PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia (Witkop syndrome). Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. Analysed two coding exons, exon-intron boundaries, and part of 3’-UTR of MSX1 only. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. Method: linkage analysis in the pedigree followed by direct MSX1 sequencing. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026). |
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| Ectodermal dysplasia v4.21 | MSX1 |
Ida Ertmanska changed review comment from: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026).; to: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia (Witkop syndrome). Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026). |
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| Ectodermal dysplasia v4.21 | MSX1 | Ida Ertmanska edited their review of gene: MSX1: Changed publications to: 16932841, 24031111, 25565750; Changed phenotypes to: Ectodermal dysplasia 3, Witkop type, OMIM:189500, Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v4.21 | MSX1 |
Ida Ertmanska changed review comment from: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies.; to: PMID: 25565750 Ceyhan et al., 2014 Report of 5 heterozygotes and 1 homozygote; MSX1 variants reported: c.119C>G, p.Ala40Gly; c.347C>T, p.(Gly116Gly); c.463C>A, p.(Pro155Glu); c.95C>T, p.(Ala32Val); c*6C>T (3' UTR region, homozygous). c*6C>T is common in population (MAF = 0.3962 in gnomAD, with total of 41187 homozygotes reported). PMID: 24031111 Ghaderi et al., 2013 Case report - 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. Homozygous mutation was identified in 3'-UTR of MSX1 of proband (*6C>T), het parents unaffected. PMID: 16932841 Chishti et al., 2006 2 distantly related Pakistani pedigrees with recessive mutation p.Ala219Thr (?), segregating with oligodontia and other dental anomalies. MSX1 is associated with 3 autosomal dominant disease entities in OMIM: Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (OMIM accessed 12th Feb 2026). |
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| Ectodermal dysplasia v4.21 | MSX1 | Ida Ertmanska reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.41 | MSX1 | Arina Puzriakova Phenotypes for gene: MSX1 were changed from Ectodermal dysplasia 3, Witkop type 189500 to Ectodermal dysplasia 3, Witkop type, OMIM:189500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v0.3 | MSX1 |
Ellen McDonagh gene: MSX1 was added gene: MSX1 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: MSX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MSX1 were set to 24031111; 11369996 Phenotypes for gene: MSX1 were set to Ectodermal dysplasia 3, Witkop type 189500 |
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