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| Mendeliome v0.14192 | SEMA7A | Zornitza Stark Phenotypes for gene: SEMA7A were changed from Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis to Decreased bone mineral density; Kallmann syndrome; Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14191 | SEMA7A | Zornitza Stark edited their review of gene: SEMA7A: Changed rating: AMBER; Changed phenotypes: Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10248 | SEMA7A | Zornitza Stark Marked gene: SEMA7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10248 | SEMA7A | Zornitza Stark Added comment: Comment when marking as ready: AMBER for PFIC. RED for other associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10248 | SEMA7A | Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10248 | SEMA7A | Zornitza Stark Phenotypes for gene: SEMA7A were changed from to Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10247 | SEMA7A | Zornitza Stark Publications for gene: SEMA7A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10246 | SEMA7A | Zornitza Stark Mode of inheritance for gene: SEMA7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10245 | SEMA7A | Zornitza Stark Classified gene: SEMA7A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10245 | SEMA7A | Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10244 | SEMA7A | Paul De Fazio edited their review of gene: SEMA7A: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10244 | SEMA7A |
Paul De Fazio changed review comment from: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women. Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell. Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype. Low evidence for association with disease.; to: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women. Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell. Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype. Rated amber due to 1 patient and mouse model in PMID:34585848. |
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| Mendeliome v0.10244 | SEMA7A |
Paul De Fazio changed review comment from: There is no conclusive evidence of association with monogenic disease for this gene. Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women. Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell. Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.; to: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women. Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell. Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype. Low evidence for association with disease. |
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| Mendeliome v0.10244 | SEMA7A | Paul De Fazio reviewed gene: SEMA7A: Rating: RED; Mode of pathogenicity: None; Publications: 16372136, 31650878, 34585848; Phenotypes: Decreased bone mineral density, Kallmann syndrome, progressive familial intrahepatic cholestasis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SEMA7A |
Zornitza Stark gene: SEMA7A was added gene: SEMA7A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SEMA7A was set to Unknown |
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