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| Mosaic skin disorders - deep sequencing v1.5 | COX7B | Arina Puzriakova Tag curated_removed tag was added to gene: COX7B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.16 | COX7B | Tom Cullup reviewed gene: COX7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.15 | COX7B |
Catherine Snow Source Expert Review Removed was added to COX7B. Mode of inheritance for gene COX7B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rating Changed from Green List (high evidence) to No List (delete) |
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| Mosaic skin disorders - deep sequencing v0.7 | COX7B | Rebecca Foulger Source London North GLH was added to COX7B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.4 | COX7B | Rebecca Foulger reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.3 | COX7B |
Rebecca Foulger gene: COX7B was added gene: COX7B was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COX7B were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism) |
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