Activity
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| DDG2P v6.17 | SHOX | Achchuthan Shanmugasundram edited their review of gene: SHOX: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SHOX-related Langer mesomelic dysplasia are definitive, monoallelic_X_hemizygous and loss of function (PMIDs: 11889214, 12116254, 17935511, 9590292). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00460. The DDG2P confidence category, allelic requirement and molecular mechanism for SHOX-related Leri-Weill dyschondrosteosis are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 11030412, 11403039, 15356038, 21712857, 9590293). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01278.; Changed publications to: 9590293, 11030412, 9590292, 17935511, 12116254, 11889214, 11403039, 15356038, 21712857; Changed phenotypes to: OMIM:127300.0, SHOX-related Leri-Weill dyschondrosteosis, LERI-WEILL DYSCHONDROSTEOSIS, OMIM:127300, OMIM:249700.0, LANGER MESOMELIC DYSPLASIA, OMIM:249700, MONDO:0009588, MONDO:0007481, SHOX-related Langer mesomelic dysplasia; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | SHOX | Achchuthan Shanmugasundram Mode of inheritance for gene SHOX was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHOX | Achchuthan Shanmugasundram reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590292, 11403039, 12116254, 17935511, 9590293, 11889214, 15356038, 21712857, 11030412; Phenotypes: LANGER MESOMELIC DYSPLASIA, OMIM:249700, LERI-WEILL DYSCHONDROSTEOSIS, OMIM:127300; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SHOX | Achchuthan Shanmugasundram Publications for gene: SHOX were updated from 9590293; 15356038; 11403039; 11030412; 21712857 to 9590292; 11403039; 12116254; 17935511; 9590293; 11889214; 15356038; 21712857; 11030412 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.51 | SHOX | Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.180 | SHOX | Rebecca Foulger changed review comment from: Current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.; to: Due to a Gene2Phenotype update, the current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.180 | SHOX | Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.180 | SHOX | Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.179 | SHOX | Rebecca Foulger commented on gene: SHOX: Current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SHOX | Rebecca Foulger reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SHOX |
Rebecca Foulger Added phenotypes LERI-WEILL DYSCHONDROSTEOSIS 127300 for gene: SHOX Publications for gene SHOX were changed from 17935511; 9590292; 11889214; 12116254 to 9590293; 15356038; 11403039; 11030412; 21712857 |
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| DDG2P v0.1 | SHOX |
Rebecca Foulger gene: SHOX was added gene: SHOX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SHOX were set to 17935511; 9590292; 11889214; 12116254 Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA 249700 |
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