Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: MTCL1

No list

MTCL1 (microtubule crosslinking factor 1)
EnsemblGeneIds (GRCh38): ENSG00000168502
EnsemblGeneIds (GRCh37): ENSG00000168502
OMIM: 615766, Gene2Phenotype
MTCL1 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two families reported with bi-allelic LOF variants, early onset ataxia and a supportive null mouse model.
Single family with mono-allelic variant in two individuals and adult-onset ataxia (not pertinent to this panel, and less compelling).
Sources: Literature
Created: 9 Dec 2020, 6:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
slowly progressive cerebellar ataxia; mild intellectual disability; seizures; episodic pain; spinocerebellar ataxia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • slowly progressive cerebellar ataxia
  • mild intellectual disability
  • seizures
  • episodic pain
  • spinocerebellar ataxia
OMIM
615766
Clinvar variants
Variants in MTCL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MTCL1 was added gene: MTCL1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: MTCL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTCL1 were set to 30548255; 28283581; 32961396 Phenotypes for gene: MTCL1 were set to slowly progressive cerebellar ataxia; mild intellectual disability; seizures; episodic pain; spinocerebellar ataxia Review for gene: MTCL1 was set to GREEN