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| Mendeliome v2.0 | TNXB | Gene migrated from ENSG00000168477 to ENSG00000168477 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4869 | TNXB | Zornitza Stark Phenotypes for gene: TNXB were changed from Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408 to Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408; Vesicoureteral reflux 8, MIM# 615963 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4868 | TNXB | Zornitza Stark Publications for gene: TNXB were set to 28306229; 28306225; 23620400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4867 | TNXB | Zornitza Stark Mode of inheritance for gene: TNXB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4866 | TNXB |
Zornitza Stark changed review comment from: Association with VUR: PMID 26408188: 6 additional individuals from 3 families with rare missense variants. De novo in one family. PMID 34059960: 3 unrelated individuals, two with LoF variants, one with missense, identified in a large cohort. PMID 36995132: five individuals, again from a large cohort presenting with obstructive uropathy, three with LoF variant and one with missense; 5th individual compound het for LoF variants. PMID 38370350: single compound het individual reported. MODERATE by ClinGen. Lack of segregation and other experimental data to support association, most of the data comes from observations in large cohorts of individuals with VUR/obstructive uropathy.; to: Association with VUR: PMID 26408188: 6 additional individuals from 3 families with rare missense variants. De novo in one family. PMID 34059960: 3 unrelated individuals, two with LoF variants, one with missense, identified in a large cohort. PMID 36995132: five individuals, again from a large cohort presenting with obstructive uropathy, three with LoF variant and one with missense; 5th individual compound het for LoF variants. PMID 38370350: single compound het individual reported. MODERATE by ClinGen. Lack of segregation and other experimental data to support association, most of the data comes from observations in large cohorts of individuals with VUR/obstructive uropathy. AMBER for this association. |
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| Mendeliome v1.4866 | TNXB |
Zornitza Stark edited their review of gene: TNXB: Added comment: Association with VUR: PMID 26408188: 6 additional individuals from 3 families with rare missense variants. De novo in one family. PMID 34059960: 3 unrelated individuals, two with LoF variants, one with missense, identified in a large cohort. PMID 36995132: five individuals, again from a large cohort presenting with obstructive uropathy, three with LoF variant and one with missense; 5th individual compound het for LoF variants. PMID 38370350: single compound het individual reported. MODERATE by ClinGen. Lack of segregation and other experimental data to support association, most of the data comes from observations in large cohorts of individuals with VUR/obstructive uropathy.; Changed publications: 28306229, 28306225, 23620400, 26408188, 34059960, 38370350, 36995132; Changed phenotypes: Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408, Vesicoureteral reflux 8, MIM# 615963; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Mendeliome v0.12747 | TNXB | Zornitza Stark Marked gene: TNXB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12747 | TNXB | Zornitza Stark Gene: tnxb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12747 | TNXB | Zornitza Stark Phenotypes for gene: TNXB were changed from to Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12746 | TNXB | Zornitza Stark Publications for gene: TNXB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12745 | TNXB | Zornitza Stark Mode of inheritance for gene: TNXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12744 | TNXB | Zornitza Stark reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 28306225, 23620400; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10100 | MSH5 |
Bryony Thompson changed review comment from: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5. Sources: Literature; to: 4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5. Sources: Literature |
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| Mendeliome v0.10100 | MSH5 |
Bryony Thompson changed review comment from: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5. Sources: Literature; to: 4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5. Sources: Literature |
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| Mendeliome v0.5644 | MSH5 |
Bryony Thompson gene: MSH5 was added gene: MSH5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MSH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSH5 were set to 28175301; 9916805; 24970489 Phenotypes for gene: MSH5 were set to Premature ovarian failure 13 MIM#617442 Review for gene: MSH5 was set to AMBER Added comment: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5. Sources: Literature |
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| Mendeliome v0.0 | TNXB |
Zornitza Stark gene: TNXB was added gene: TNXB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNXB was set to Unknown |
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