Malformations of cortical development
Gene: ENO1Comment 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
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: LiteratureCreated: 1 Feb 2021, 9:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polymicrogyria
Publications
Gene: eno1 has been classified as Red List (Low Evidence).
Phenotypes for gene: ENO1 were changed from Polymicrogyria to Polymicrogyria, MONDO:0000087
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