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| Mendeliome v0.10517 | DZIP1L | Zornitza Stark Marked gene: DZIP1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10517 | DZIP1L | Zornitza Stark Gene: dzip1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10517 | DZIP1L | Zornitza Stark Phenotypes for gene: DZIP1L were changed from to Polycystic kidney disease 5, MIM#617610 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10516 | DZIP1L | Zornitza Stark Publications for gene: DZIP1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10515 | DZIP1L | Zornitza Stark Mode of inheritance for gene: DZIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10514 | DZIP1L | Zornitza Stark reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28530676; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5392 | DZIP1 | Zornitza Stark Phenotypes for gene: DZIP1 were changed from Mitral valve prolapse, MIM#610840 to Mitral valve prolapse, MIM#610840; Spermatogenic failure 47, MIM# 619102 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5391 | DZIP1 | Zornitza Stark Publications for gene: DZIP1 were set to 31118289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5390 | DZIP1 | Zornitza Stark Mode of inheritance for gene: DZIP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5389 | DZIP1 |
Zornitza Stark changed review comment from: One large 4-generation family reported, where missense variant segregated with disease. Two additional individuals identified from a cohort. All variants present at low frequency in population databases. Mouse model recapitulated phenotype. Sources: Literature; to: Association with MVP: One large 4-generation family reported, where missense variant segregated with disease. Two additional individuals identified from a cohort. All variants present at low frequency in population databases. Mouse model recapitulated phenotype. Sources: Literature |
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| Mendeliome v0.5389 | DZIP1 | Zornitza Stark edited their review of gene: DZIP1: Added comment: Two individuals reported in PMID 32051257 with bi-allelic variants and spermatogenic failure.; Changed publications: 31118289, 32051257; Changed phenotypes: Mitral valve prolapse, MIM#610840, Spermatogenic failure 47, MIM# 619102; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5389 | DZIP1 | Zornitza Stark Marked gene: DZIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5389 | DZIP1 | Zornitza Stark Gene: dzip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5389 | DZIP1 | Zornitza Stark Phenotypes for gene: DZIP1 were changed from Mitral valve prolapse to Mitral valve prolapse, MIM#610840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5388 | DZIP1 | Zornitza Stark Classified gene: DZIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5388 | DZIP1 | Zornitza Stark Gene: dzip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5387 | DZIP1 | Zornitza Stark edited their review of gene: DZIP1: Changed phenotypes: Mitral valve prolapse, MIM#610840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5387 | DZIP1 |
Zornitza Stark gene: DZIP1 was added gene: DZIP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DZIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DZIP1 were set to 31118289 Phenotypes for gene: DZIP1 were set to Mitral valve prolapse Review for gene: DZIP1 was set to AMBER Added comment: One large 4-generation family reported, where missense variant segregated with disease. Two additional individuals identified from a cohort. All variants present at low frequency in population databases. Mouse model recapitulated phenotype. Sources: Literature |
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| Mendeliome v0.0 | DZIP1L |
Zornitza Stark gene: DZIP1L was added gene: DZIP1L was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DZIP1L was set to Unknown |
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