| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Combined Immunodeficiency v0.18 | ERCC6L2 | Zornitza Stark Marked gene: ERCC6L2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.18 | ERCC6L2 | Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.18 | ERCC6L2 | Zornitza Stark Classified gene: ERCC6L2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.18 | ERCC6L2 | Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.17 | ERCC6L2 |
Zornitza Stark gene: ERCC6L2 was added gene: ERCC6L2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6L2 were set to 24507776; 27185855 Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715 Added comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, two with the same truncating variant. Sources: Expert list |
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