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| Genomic newborn screening: BabyScreen+ v1.1 | SAMD9 |
Zornitza Stark Tag treatable tag was added to gene: SAMD9. Tag endocrine tag was added to gene: SAMD9. Tag haematological tag was added to gene: SAMD9. |
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| Genomic newborn screening: BabyScreen+ v0.2061 | SAMD9L | Zornitza Stark Marked gene: SAMD9L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2061 | SAMD9L | Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2061 | SAMD9L | Zornitza Stark Classified gene: SAMD9L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2061 | SAMD9L | Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2060 | SAMD9L |
Zornitza Stark gene: SAMD9L was added gene: SAMD9L was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological, haematological tags were added to gene: SAMD9L. Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SAMD9L were set to 31306780 Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550 Review for gene: SAMD9L was set to GREEN Added comment: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism. Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. The germline genetic defect is associated with somatic loss of chromosome 7 (monosomy 7) resulting in the deletion of several genes on chromosome 7 that may predispose to the development of myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML). Treatment: BMT. Non-genetic confirmatory testing: no. Sources: Expert list |
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| Genomic newborn screening: BabyScreen+ v0.2059 | SAMD9 | Zornitza Stark Marked gene: SAMD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2059 | SAMD9 | Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2059 | SAMD9 | Zornitza Stark Classified gene: SAMD9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2059 | SAMD9 | Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2058 | SAMD9 |
Zornitza Stark gene: SAMD9 was added gene: SAMD9 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SAMD9 were set to 31306780 Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM# 617053 Review for gene: SAMD9 was set to GREEN Added comment: MIRAGE syndrome (MIRAGE) is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection. Treatment: BMT. Non-genetic confirmatory testing: no. Sources: Expert list |
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