Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria

Gene: ELANE

Red List (low evidence)

ELANE (elastase, neutrophil expressed)
EnsemblGeneIds (GRCh38): ENSG00000197561
EnsemblGeneIds (GRCh37): ENSG00000197561
OMIM: 130130, Gene2Phenotype
ELANE is in 9 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Cyclic Neutropenia (AD)
  • Neutropenia, Severe Congital 1, Autosomal Dominant
  • Severe congenital neutropenic
OMIM
130130
Clinvar variants
Variants in ELANE
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELANE was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list

29 Oct 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

29 Oct 2015, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene ELANE were set to Cyclic Neutropenia (AD); Neutropenia, Severe Congital 1, Autosomal Dominant

29 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ELANE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Oct 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

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ELANE was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELANE was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN