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| Bone Marrow Failure v1.91 | ERCC6L2 | Santosh Varughese reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24507776, 27185855; Phenotypes: Bone marrow failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.14 | ERCC6L2 | Zornitza Stark Marked gene: ERCC6L2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.14 | ERCC6L2 | Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.14 | ERCC6L2 | Zornitza Stark Classified gene: ERCC6L2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.14 | ERCC6L2 | Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.13 | ERCC6L2 |
Zornitza Stark gene: ERCC6L2 was added gene: ERCC6L2 was added to Bone Marrow Failure_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 Review for gene: ERCC6L2 was set to GREEN 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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