Cytopenias and congenital anaemias
Gene: ENO1
ENO1 (enolase 1)
EnsemblGeneIds (GRCh38): ENSG00000074800
EnsemblGeneIds (GRCh37): ENSG00000074800
OMIM: 172430, Gene2Phenotype
ENO1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000074800
EnsemblGeneIds (GRCh37): ENSG00000074800
OMIM: 172430, Gene2Phenotype
ENO1 is in 2 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Currently there is not enough evidence in the literature or in four main sources to support this the variants of ENO1 in the involvement of Enolase deficiency.Created: 27 Feb 2017, 5:14 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Enzyme Disorder; Enolase deficiency
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Enzyme Disorder
- Enolase deficiency
- OMIM
- 172430
- Clinvar variants
- Variants in ENO1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
27 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)ENO1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)ENO1 was created by LouiseD