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| Mendeliome v1.3154 | BMP7 | Zornitza Stark Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) to Congenital anomaly of kidney and urinary tract, MONDO:0019719, BMP7-related; Isolated craniosynostosis, MONDO:0015337, BMP7-related; Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771, BMP7-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3153 | BMP7 | Sarah Milton reviewed gene: BMP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital anomaly of kidney and urinary tract, MONDO:0019719, BMP7-related, Isolated craniosynostosis, MONDO:0015337, BMP7-related, Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771, BMP7-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6213 | BMP7 | Zornitza Stark Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract to Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6212 | BMP7 | Zornitza Stark Publications for gene: BMP7 were set to 32266521; 24429398 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6211 | BMP7 | Zornitza Stark edited their review of gene: BMP7: Changed publications: 32266521, 24429398, 33434492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6211 | BMP7 |
Zornitza Stark changed review comment from: Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis CAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT. Sources: Literature; to: Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis CAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT. Sources: Literature PMID 33434492: Two individuals with likely deleterious variants identified in a cohort of individuals with MRKHS. |
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| Mendeliome v0.6211 | BMP7 | Zornitza Stark edited their review of gene: BMP7: Changed phenotypes: Non-syndromic metopic craniosynostosis, Congenital abnormalities of the kidneys and urinary tract, Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6211 | BMP7 | Zornitza Stark Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis to Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6210 | BMP7 | Zornitza Stark edited their review of gene: BMP7: Changed phenotypes: Non-syndromic metopic craniosynostosis, Congenital abnormalities of the kidneys and urinary tract | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5093 | BMP7 | Zornitza Stark Marked gene: BMP7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5093 | BMP7 | Zornitza Stark Gene: bmp7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5093 | BMP7 |
Zornitza Stark gene: BMP7 was added gene: BMP7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP7 were set to 32266521; 24429398 Phenotypes for gene: BMP7 were set to Non-syndromic metopic craniosynostosis Mode of pathogenicity for gene: BMP7 was set to Other Review for gene: BMP7 was set to RED Added comment: Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis CAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT. Sources: Literature |
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