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| Neutropaenia consistent with ELANE mutations v1.2 | ELANE | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #162800 & #202700) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neutropaenia consistent with ELANE mutations v1.2 | ELANE | Achchuthan Shanmugasundram Phenotypes for gene: ELANE were changed from to Neutropenia, cyclic, OMIM:162800; Neutropenia, severe congenital 1, autosomal dominant, OMIM:202700; ELANE-related neutropenia, MONDO:1060165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neutropaenia consistent with ELANE mutations v0.1 | ELANE | Achchuthan Shanmugasundram reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neutropaenia consistent with ELANE mutations v0.1 | ELANE |
Achchuthan Shanmugasundram gene: ELANE was added gene: ELANE was added to Neutropaenia consistent with ELANE mutations. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Neutropaenia consistent with ELANE mutations v0.0 |
Achchuthan Shanmugasundram Added Panel Neutropaenia consistent with ELANE mutations Set list of related panels to R313 Set panel types to: GMS Rare Disease |
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