| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v0.1940 | DNAJC21 | Zornitza Stark Marked gene: DNAJC21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1940 | DNAJC21 | Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1940 | DNAJC21 |
Zornitza Stark Tag treatable tag was added to gene: DNAJC21. Tag haematological tag was added to gene: DNAJC21. |
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| BabyScreen+ newborn screening v0.1940 | DNAJC21 | Zornitza Stark Classified gene: DNAJC21 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1940 | DNAJC21 | Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1939 | DNAJC21 |
Zornitza Stark gene: DNAJC21 was added gene: DNAJC21 was added to Baby Screen+ newborn screening. Sources: Expert Review Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687 Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052 Review for gene: DNAJC21 was set to GREEN Added comment: Onset of pancytopenia in early childhood; variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies. Treatment: oral pancreatic enzymes, fat-soluble vitamins, blood and/or platelet transfusions, granulocyte-colony stimulation factor, bone marrow transplant Confirmatory non-genetic testing: no; FBE as pancytopenia evolves. Sources: Expert Review |
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