ELANE

elastase, neutrophil expressed
OMIM: 130130, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green ELANE in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hereditary Periodic Fever Syndromes
  • Neutropenia, cyclic, 162800
  • Recurring fever and malaise
Tags
  • mosaicism
Green ELANE in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: miscellaneous
  • Severe congenital neutropenia
  • MDS, AML
Green ELANE in COVID-19 research


Level 2: Viral research
Version 1.141

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Congenital neutropenia
  • Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia
  • Neutropenia, cyclic, 162800
  • Cyclic neutropenia
  • Congenital defects of phagocyte number or function
  • Neutropenia, severe congenital 1
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
Green ELANE in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.197
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Neutropenia, cyclic, 162800
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
  • Neutropenia, severe congenital 1
  • Congenital neutropenia
  • Cyclic neutropenia
  • Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia
  • Congenital defects of phagocyte number or function
Green ELANE in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Neutropenia, cyclic 162800
  • Neutropenia, severe congenital 1, autosomal dominant 202700
Green ELANE in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: miscellaneous
  • Severe congenital neutropenia
  • MDS, AML
Green ELANE in Cytopenia - NOT Fanconi anaemia


Version 3.27
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
  • Neutropenia, cyclic, 162800
  • Neutropenia, severe congenital 1, autosomal dominant 202700
  • 202700 Neutropenia, severe congenital 1
  • 202700 Neutropenia, severe congenital 1, autosomal dominant
  • Neutropenia, cyclic 162800
  • 162800 Cyclic neutropenia
  • 162800 Neutropenia, cyclic
Green ELANE in Severe Paediatric Disorders


Version 1.184

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
  • Neutropenia, cyclic, 162800
Green ELANE in Neutropaenia consistent with ELANE mutations


Version 1.1
Latest signed off version: v1.0 (14 Sep 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green