| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.10953 | FGF17 |
Ain Roesley changed review comment from: 31200363; 1x individual 31748124 3x unrelated individuals. 1 has p.48_52del and another variant in OTUD4 (no current mendelian disease association), 1x with Pro120Leu (5 hets in gnomAD) and 1x with Lys191Arg (55 hets in gnomad) 23643382 3x unrelated individuals, including 1 large consanguineous 10-generation French Canadian family. In this large family, 3 other variants in FGFR1, HS6ST1, and FLRT3 were identified. None of the other affecteds carried the FGF17 variant Summary: 3x individuals with convincing evidence; to: PMID:31200363; 1x individual PMID:31748124 3x unrelated individuals. 1 has p.48_52del and another variant in OTUD4 (no current mendelian disease association), 1x with Pro120Leu (5 hets in gnomAD) and 1x with Lys191Arg (55 hets in gnomad) PMID:23643382 3x unrelated individuals, including 1 large consanguineous 10-generation French Canadian family. In this large family, 3 other variants in FGFR1, HS6ST1, and FLRT3 were identified. None of the other affecteds carried the FGF17 variant Summary: 3x individuals with convincing evidence |
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| Mendeliome v0.3392 | HS6ST1 | Zornitza Stark Mode of inheritance for gene: HS6ST1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3391 | HS6ST1 | Zornitza Stark edited their review of gene: HS6ST1: Changed mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3391 | HS6ST1 | Zornitza Stark Marked gene: HS6ST1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3391 | HS6ST1 | Zornitza Stark Gene: hs6st1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3391 | HS6ST1 | Zornitza Stark Phenotypes for gene: HS6ST1 were changed from to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3390 | HS6ST1 | Zornitza Stark Publications for gene: HS6ST1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3389 | HS6ST1 | Zornitza Stark Mode of inheritance for gene: HS6ST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3388 | HS6ST1 | Zornitza Stark Classified gene: HS6ST1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3388 | HS6ST1 | Zornitza Stark Gene: hs6st1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3387 | HS6ST1 | Zornitza Stark reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | HS6ST1 |
Zornitza Stark gene: HS6ST1 was added gene: HS6ST1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HS6ST1 was set to Unknown |
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