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| Neurodegeneration with brain iron accumulation v0.22 | BCAS3 | Zornitza Stark Marked gene: BCAS3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.22 | BCAS3 | Zornitza Stark Gene: bcas3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.22 | BCAS3 | Zornitza Stark Phenotypes for gene: BCAS3 were changed from spasticity; intellectual disability; global developmental delay; microcephaly; short stature to Hengel-Maroofian-Schols syndrome, MIM# 619641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.21 | BCAS3 | Zornitza Stark Publications for gene: BCAS3 were set to DOI:10.1002/mds.28915 Corpus ID: 245670502 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.20 | BCAS3 | Zornitza Stark Classified gene: BCAS3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.20 | BCAS3 | Zornitza Stark Gene: bcas3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.19 | BCAS3 | Zornitza Stark reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34981858; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.15 | BCAS3 |
Shekeeb Mohammad gene: BCAS3 was added gene: BCAS3 was added to Neuroferritinopathies. Sources: Expert Review,Literature Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to DOI:10.1002/mds.28915 Corpus ID: 245670502 Phenotypes for gene: BCAS3 were set to spasticity; intellectual disability; global developmental delay; microcephaly; short stature Penetrance for gene: BCAS3 were set to unknown Review for gene: BCAS3 was set to GREEN gene: BCAS3 was marked as current diagnostic Added comment: Sources: Expert Review, Literature |
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