1. Panels
  2. Malformations of cortical development
  3. ENO1
STRs in panel
Prev Next

Malformations of cortical development

Gene: ENO1

Red List (low evidence)
ENO1 (enolase 1)
EnsemblGeneIds (GRCh38): ENSG00000074800
EnsemblGeneIds (GRCh37): ENSG00000074800
OMIM: 172430, Gene2Phenotype
ENO1 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Created: 30 Nov 2021, 2:52 p.m. | Last Modified: 30 Nov 2021, 2:52 p.m.
Panel Version: 2.100
Created: 30 Nov 2021, 2:52 p.m.
Last Modified: 30 Nov 2021, 2:52 p.m.
Panel version: 2.100

Zornitza Stark (Australian Genomics)

Red List (low evidence)

ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect though note variants in RERE also cause a neurodevelopmental phenotype.
Sources: Literature
Created: 1 Feb 2021, 9:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polymicrogyria

Publications

Created: 1 Feb 2021, 9:20 a.m.

Panel version: 2.44

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Polymicrogyria, MONDO:0000087
OMIM
172430
Clinvar variants
Variants in ENO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: eno1 has been classified as Red List (Low Evidence).

30 Nov 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ENO1 were changed from Polymicrogyria to Polymicrogyria, MONDO:0000087

1 Feb 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ENO1 was added gene: ENO1 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENO1 were set to 32488097 Phenotypes for gene: ENO1 were set to Polymicrogyria Review for gene: ENO1 was set to RED