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| Bone Marrow Failure v2.2 | SEPTIN6 | Zornitza Stark Marked gene: SEPTIN6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v2.2 | SEPTIN6 | Zornitza Stark Gene: septin6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v2.2 | SEPTIN6 | Zornitza Stark edited their review of gene: SEPTIN6: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v2.2 | SEPTIN6 | Zornitza Stark Mode of inheritance for gene: SEPTIN6 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v2.1 | Zornitza Stark Copied gene SEPTIN6 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v2.1 | SEPTIN6 |
Zornitza Stark gene: SEPTIN6 was added gene: SEPTIN6 was added to Bone Marrow Failure. Sources: Expert Review Amber,Literature Mode of inheritance for gene: SEPTIN6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SEPTIN6 were set to 42088107; 34677878 Phenotypes for gene: SEPTIN6 were set to Inborn error of immunity, MONDO:0003778, SEPTIN6-related |
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