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  2. Ataxia - adult onset
  3. MTCL1
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Ataxia - adult onset

Gene: MTCL1

Amber List (moderate evidence)
MTCL1 (microtubule crosslinking factor 1)
EnsemblGeneIds (GRCh38): ENSG00000168502
EnsemblGeneIds (GRCh37): ENSG00000168502
OMIM: 615766, Gene2Phenotype
MTCL1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Single case with a homozygous loss of function variant in a Polish study of early-onset cerebellar ataxia, and a single family with a single heterozygous missense (p.Val1435Met) identified in two family members with adult-onset spinocerebellar ataxia. Mtcl1 gene disruption in mice results in abnormal motor coordination with Purkinje cell degeneration
Sources: Expert list
Created: 17 Apr 2020, 12:08 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
spinocerebellar ataxia

Publications

Created: 17 Apr 2020, 12:08 a.m.

Panel version: 0.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • spinocerebellar ataxia
OMIM
615766
Clinvar variants
Variants in MTCL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jun 2024, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MTCL1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mtcl1 has been classified as Amber List (Moderate Evidence).

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mtcl1 has been classified as Amber List (Moderate Evidence).

17 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MTCL1 was added gene: MTCL1 was added to Ataxia - adult onset. Sources: Expert list Mode of inheritance for gene: MTCL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MTCL1 were set to 30548255; 28283581 Phenotypes for gene: MTCL1 were set to spinocerebellar ataxia Review for gene: MTCL1 was set to AMBER