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Genetic Epilepsy

Gene: MICAL1

Amber List (moderate evidence)

MICAL1 (microtubule associated monooxygenase, calponin and LIM domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000135596
EnsemblGeneIds (GRCh37): ENSG00000135596
OMIM: 607129, Gene2Phenotype
MICAL1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two families with supporting in vitro functional assays. Assessment of expression pattern of Mical-1 in the temporal neocortex of patients with intractable temporal epilepsy and pilocarpine-induced rat model, suggests Mical-1 may associate with inner pathophysiological modulation in epilepsy.
Sources: Expert list
Created: 11 Nov 2021, 5:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant epilepsy with auditory features (ADEAF)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Autosomal dominant epilepsy with auditory features (ADEAF)
OMIM
607129
Clinvar variants
Variants in MICAL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mical1 has been classified as Amber List (Moderate Evidence).

11 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mical1 has been classified as Amber List (Moderate Evidence).

11 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mical1 has been classified as Amber List (Moderate Evidence).

11 Nov 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MICAL1 was added gene: MICAL1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: MICAL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MICAL1 were set to 29394500; 21638339 Phenotypes for gene: MICAL1 were set to Autosomal dominant epilepsy with auditory features (ADEAF) Review for gene: MICAL1 was set to AMBER