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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
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