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  2. Polymicrogyria and Schizencephaly
  3. ENO1
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Polymicrogyria and Schizencephaly

Gene: ENO1

Red List (low evidence)
ENO1 (enolase 1)
EnsemblGeneIds (GRCh38): ENSG00000074800
EnsemblGeneIds (GRCh37): ENSG00000074800
OMIM: 172430, Gene2Phenotype
ENO1 is in 3 panels

1 review

Kristin Rigbye (Victorian Clinical Genetics Services)

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. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2.
Sources: Literature
Created: 1 Feb 2021, 4:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polymicrogyria

Publications

Created: 1 Feb 2021, 4:32 a.m.

Panel version: 0.156

Details

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

History Filter Activity

8 Oct 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2021, Gel status: 0

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

Kristin Rigbye (Victorian Clinical Genetics Services)

gene: ENO1 was added gene: ENO1 was added to Polymicrogyria and Schizencephaly. 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