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| Laterality disorders and isomerism v1.5 | MNS1 |
Zornitza Stark gene: MNS1 was added gene: MNS1 was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MNS1 were set to 31534215; 30148830 Phenotypes for gene: MNS1 were set to Heterotaxy; male infertility Review for gene: MNS1 was set to GREEN gene: MNS1 was marked as current diagnostic Added comment: Eight families reported altogether. However, four are Amish and share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder variant. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated. Sources: Literature |
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| Laterality disorders and isomerism v0.89 | DNAH5 | Louise Daugherty Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.88 | DNAH5 | Louise Daugherty Publications for gene: DNAH5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.87 | DNAH5 | Louise Daugherty Mode of inheritance for gene: DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.51 | DNAH5 | Matthew Edwards reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261302, 11788826, 11062149; Phenotypes: OMIM 608644 Ciliary dyskinesia, primary, 3, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.3 | DNAH5 |
Louise Daugherty Source Expert Review Green was added to DNAH5. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v0.2 | DNAH5 | Louise Daugherty reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.1 | DNAH5 |
Louise Daugherty gene: DNAH5 was added gene: DNAH5 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAH5 was set to |
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