1. Panels
  2. Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
  3. ELANE
STRs in panel
Prev Next
Regions in panel
Prev Next

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 8 panels

0 reviews

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