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| 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+ v0.388 | XPC | Zornitza Stark Marked gene: XPC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.388 | XPC | Zornitza Stark Gene: xpc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.388 | XPC | Zornitza Stark Phenotypes for gene: XPC were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group C MIM#278720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.387 | XPC | Zornitza Stark Publications for gene: XPC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.386 | XPC |
Zornitza Stark Tag treatable tag was added to gene: XPC. Tag clinical trial tag was added to gene: XPC. |
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| Genomic newborn screening: BabyScreen+ v0.274 | XPC | Lilian Downie edited their review of gene: XPC: Changed publications: PMID: 26255934 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.274 | XPC | Lilian Downie reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22044607, PMID: 32918226; Phenotypes: Xeroderma pigmentosum, group C MIM#278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | XPC |
Zornitza Stark gene: XPC was added gene: XPC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to Xeroderma pigmentosum |
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