Ataxia - paediatric
Gene: MTCL1EnsemblGeneIds (GRCh38): ENSG00000168502
EnsemblGeneIds (GRCh37): ENSG00000168502
OMIM: 615766, Gene2Phenotype
MTCL1 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A new report of another case with a homozygous loss of function variant and a similar phenotype to the previously reported early onset homozygous Polish case (2 independent cases), and the supporting null mouse model.Created: 20 Nov 2020, 6:16 a.m. | Last Modified: 20 Nov 2020, 6:16 a.m.
Panel Version: 0.265
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 degenerationCreated: 17 Apr 2020, 12:06 a.m. | Last Modified: 17 Apr 2020, 12:06 a.m.
Panel Version: 0.134
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
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs
- OMIM
- 615766
- Clinvar variants
- Variants in MTCL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mtcl1 has been classified as Green List (High Evidence).
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: MTCL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
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 - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: MTCL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTCL1 were set to 30548255; 28283581 Phenotypes for gene: MTCL1 were set to slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs