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| Differences of Sex Development v1.43 | NDNF | Zornitza Stark Publications for gene: NDNF were set to 31883645; 40788466 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v1.42 | NDNF | Zornitza Stark Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v1.41 | NDNF | Zornitza Stark edited their review of gene: NDNF: Changed phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v1.41 | NDNF | Zornitza Stark edited their review of gene: NDNF: Added comment: PMID 36454653: another individual with homozygous LoF variant and Kallman syndrome.; Changed publications: 31883645, 40788466, 36454653; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v1.15 | NDNF | Zornitza Stark Publications for gene: NDNF were set to 31883645 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v1.14 | NDNF | Zornitza Stark changed review comment from: PMID 40788466: two sisters with compound het variants and CHH.; to: PMID 40788466: two sisters with compound het variants and CHH. RED for this MOI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v1.14 | NDNF | Zornitza Stark edited their review of gene: NDNF: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v1.14 | NDNF | Zornitza Stark edited their review of gene: NDNF: Added comment: PMID 40788466: two sisters with compound het variants and CHH.; Changed publications: 31883645, 40788466 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.267 | NDNF | Elena Savva Phenotypes for gene: NDNF were changed from Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.266 | NDNF | Elena Savva Phenotypes for gene: NDNF were changed from Congenital hypogonadotropic hypogonadism (CHH) to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.266 | NDNF | Elena Savva Classified gene: NDNF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.266 | NDNF | Elena Savva Gene: ndnf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.265 | NDNF | Elena Savva reviewed gene: NDNF: Rating: AMBER; Mode of pathogenicity: None; Publications: 31883645; Phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.26 | NDNF | Zornitza Stark Marked gene: NDNF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.26 | NDNF | Zornitza Stark Gene: ndnf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.26 | NDNF | Zornitza Stark Classified gene: NDNF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.26 | NDNF | Zornitza Stark Gene: ndnf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.25 | NDNF |
Zornitza Stark gene: NDNF was added gene: NDNF was added to Disorders of Sex Differentiation. Sources: Literature Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NDNF were set to 31883645 Phenotypes for gene: NDNF were set to Congenital hypogonadotropic hypogonadism (CHH) Review for gene: NDNF was set to GREEN Added comment: Three heterozygous protein-truncating variants and one heterozygous missense variant identified in a cohort of 240 unrelated IHH patients. The authors also provided supporting evidence from animal models. Sources: Literature |
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