Periodic fever syndromes
Gene: ELANEComment on list classification: Reasonable to include as a differential diagnosis for familial Mediterranean fever (see GeneReview)Created: 2 Feb 2017, 11:30 a.m.
Comment on list classification: Updated rating from Red to Amber ready for further review.Created: 16 Jan 2017, 4:47 p.m.
Added a 'mosaicism' tag based on PMID:25912133 (Hirata et al. 2015) which reports mosaicism of an ELANE mutation in an asymptomatic mother of patients with cyclic Neutropenia (OMIM:162800).Created: 16 Jan 2017, 4:46 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 16 Jan 2017, 4:44 p.m.
PMID:10581030 (Horwitz et al., 1999) identified 7 different single-base substitutions in the ELANE (ELA2) gene in 13 families with cyclic Neutropenia (OMIM:162800) as well as a new mutation in a sporadic case. Additional ELANE mutations in OMIM:162800 reported in other publications, including PMID:25019553 and PMID:25912133.Created: 16 Jan 2017, 4:42 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 16 Jan 2017, 4:30 p.m.
22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Publications for ELANE were set to 25019553; 25912133; 20301405
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for ELANE was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for ELANE was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene ELANE were set to Hereditary Periodic Fever Syndromes; Neutropenia, cyclic, 162800; Recurring fever and malaise
ELANE was added to Periodic fever syndromes and amyloidosis panel. Sources: Emory Genetics Laboratory