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| Mendeliome v2.107 | DND1 |
Sarah Milton changed review comment from: DND1 encodes an RNA‑binding protein thought to be involved in inhibition of microRNA mediated repression. PMID: 36246621 reported 3 males in one family with a homozygous missense variant in DND1 presenting with azospermia. Functional studies demonstrated reduced protein expression in cell models transfected with the variant NANOS2 interaction from coimmunoprecipitation. PMID: 39999035 reports one female with a biallelic loss of function variant in DND1 presenting with primary ovarian failure. PMID: 36807972 reports 5 males with 4 different heterozygous variants in DND1 (missense and one frameshift) presenting with azospermia and oligozoospermia. Functional studies were performed in zebrafish however homozygous knockout was performed with mRNA containing patient variants introduced resulting in abnormal primordial germ cell development. Authors state unclear whether the mechanism of inheritance is autosomal recessive vs semidominant. Supportive mouse and zebrafish knockout models have been published indicating sterility in male animals and reduced number of oocytes in females. It appears there is more evidence for the biallelic disease association however given only 2 affected unrelated patients have been published for this MOI more literature is required. Sources: Literature; to: DND1 encodes an RNA‑binding protein thought to be involved in inhibition of microRNA mediated repression. PMID: 36246621 reported 3 males in one family with a homozygous missense variant in DND1 presenting with azospermia. Functional studies demonstrated reduced protein expression in cell models transfected with the variant and reduced NANOS2 interaction from coimmunoprecipitation studies. PMID: 39999035 reports one female with a biallelic loss of function variant in DND1 presenting with primary ovarian failure. PMID: 36807972 reports 5 males with 4 different heterozygous variants in DND1 (missense and one frameshift) presenting with azospermia and oligozoospermia. Functional studies were performed in zebrafish however homozygous knockout was performed with mRNA containing patient variants introduced resulting in abnormal primordial germ cell development. Authors state unclear whether the mechanism of inheritance is autosomal recessive vs semidominant. Supportive mouse and zebrafish knockout models have been published indicating sterility in male animals and reduced number of oocytes in females. It appears there is more evidence for the biallelic disease association however given only 2 affected unrelated patients have been published for this MOI more literature is required. Sources: Literature |
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| Mendeliome v2.107 | DND1 |
Sarah Milton changed review comment from: DND1 encodes an RNA‑binding protein thought to be involved in inhibition of microRNA mediated repression. PMID: 36246621 reported 3 males in one family with a homozygous missense variant in DND1 presenting with azospermia. Demonstrated reduced protein expression in cell models transfected with the variant NANOS2 interaction from coimmunoprecipitation. PMID: 39999035 reports one female with a biallelic loss of function variant in DND1 presenting with primary ovarian failure. PMID: 36807972 reports 5 males with 4 different heterozygous variants in DND1 (missense and one frameshift) presenting with azospermia and oligozoospermia. Functional studies were performed in zebrafish however homozygous knockout was performed with mRNA containing patient variants introduced resulting in abnormal primordial germ cell development. Authors state unclear whether the mechanism of inheritance is autosomal recessive vs semidominant. Supportive mouse and zebrafish knockout models have been published indicating sterility in male animals and reduced number of oocytes in females. It appears there is more evidence for the biallelic disease association however given only 2 affected unrelated patients have been published for this MOI more literature is required. Sources: Literature; to: DND1 encodes an RNA‑binding protein thought to be involved in inhibition of microRNA mediated repression. PMID: 36246621 reported 3 males in one family with a homozygous missense variant in DND1 presenting with azospermia. Functional studies demonstrated reduced protein expression in cell models transfected with the variant NANOS2 interaction from coimmunoprecipitation. PMID: 39999035 reports one female with a biallelic loss of function variant in DND1 presenting with primary ovarian failure. PMID: 36807972 reports 5 males with 4 different heterozygous variants in DND1 (missense and one frameshift) presenting with azospermia and oligozoospermia. Functional studies were performed in zebrafish however homozygous knockout was performed with mRNA containing patient variants introduced resulting in abnormal primordial germ cell development. Authors state unclear whether the mechanism of inheritance is autosomal recessive vs semidominant. Supportive mouse and zebrafish knockout models have been published indicating sterility in male animals and reduced number of oocytes in females. It appears there is more evidence for the biallelic disease association however given only 2 affected unrelated patients have been published for this MOI more literature is required. Sources: Literature |
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| Mendeliome v2.107 | DND1 |
Sarah Milton gene: DND1 was added gene: DND1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DND1 were set to 39999035; 36807972; 36246621; 30439356 Phenotypes for gene: DND1 were set to Infertility disorder, MONDO:0005047, DND1-related Review for gene: DND1 was set to AMBER Added comment: DND1 encodes an RNA‑binding protein thought to be involved in inhibition of microRNA mediated repression. PMID: 36246621 reported 3 males in one family with a homozygous missense variant in DND1 presenting with azospermia. Demonstrated reduced protein expression in cell models transfected with the variant NANOS2 interaction from coimmunoprecipitation. PMID: 39999035 reports one female with a biallelic loss of function variant in DND1 presenting with primary ovarian failure. PMID: 36807972 reports 5 males with 4 different heterozygous variants in DND1 (missense and one frameshift) presenting with azospermia and oligozoospermia. Functional studies were performed in zebrafish however homozygous knockout was performed with mRNA containing patient variants introduced resulting in abnormal primordial germ cell development. Authors state unclear whether the mechanism of inheritance is autosomal recessive vs semidominant. Supportive mouse and zebrafish knockout models have been published indicating sterility in male animals and reduced number of oocytes in females. It appears there is more evidence for the biallelic disease association however given only 2 affected unrelated patients have been published for this MOI more literature is required. Sources: Literature |
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| Mendeliome v2.0 | NOS2 | Gene migrated from ENSG00000007171 to ENSG00000007171 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2663 | NOS2 | Zornitza Stark Marked gene: NOS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2663 | NOS2 | Zornitza Stark Gene: nos2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2663 | NOS2 | Zornitza Stark Phenotypes for gene: NOS2 were changed from to {Malaria, resistance to} 611162; Disseminated CMV disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2662 | NOS2 | Zornitza Stark Publications for gene: NOS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2661 | NOS2 | Zornitza Stark Classified gene: NOS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2661 | NOS2 | Zornitza Stark Gene: nos2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2660 | NOS2 | Zornitza Stark edited their review of gene: NOS2: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2660 | NOS2 | Zornitza Stark reviewed gene: NOS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12433515, 31995689; Phenotypes: {Malaria, resistance to} 611162, Disseminated CMV disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | NOS2 |
Zornitza Stark gene: NOS2 was added gene: NOS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOS2 was set to Unknown |
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