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Mendeliome v0.8059 | SPAG17 | Zornitza Stark Marked gene: SPAG17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.8059 | SPAG17 | Zornitza Stark Gene: spag17 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.8059 | SPAG17 |
Zornitza Stark gene: SPAG17 was added gene: SPAG17 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SPAG17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPAG17 were set to 28548327 Phenotypes for gene: SPAG17 were set to Spermatogenic failure 55, MIM#619380 Review for gene: SPAG17 was set to RED Added comment: Single family reported with two affected brothers, homozygous missense variant. Sources: Literature |
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Mendeliome v0.5038 | SPAG1 | Zornitza Stark Marked gene: SPAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5038 | SPAG1 | Zornitza Stark Gene: spag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5038 | SPAG1 | Zornitza Stark Phenotypes for gene: SPAG1 were changed from to Ciliary dyskinesia, primary, 28 (MIM#615505) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5037 | SPAG1 | Zornitza Stark Publications for gene: SPAG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5036 | SPAG1 | Zornitza Stark Mode of inheritance for gene: SPAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5035 | SPAG1 | Zornitza Stark reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32622824, 32502479, 24055112; Phenotypes: Ciliary dyskinesia, primary, 28 (MIM#615505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.0 | SPAG1 |
Zornitza Stark gene: SPAG1 was added gene: SPAG1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPAG1 was set to Unknown |