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  2. Early onset pancytopenia and red cell disorders
  3. ELANE
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Early onset pancytopenia and red cell disorders

Gene: ELANE

Amber List (moderate evidence)
ELANE (elastase, neutrophil expressed)
EnsemblGeneIds (GRCh38): ENSG00000197561
EnsemblGeneIds (GRCh37): ENSG00000197561
OMIM: 130130, Gene2Phenotype
ELANE is in 8 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 1 Autosomal Dominant
  • Cyclic Neutropenia
  • Neutropenia, cyclic, 162800Neutropenia, severe congenital 1, autosomal dominant, 202700
OMIM
130130
Clinvar variants
Variants in ELANE
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ELANE was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELANE was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

30 Sep 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ELANE was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list