Leukodystrophy - paediatric
Gene: TOMM70EnsemblGeneIds (GRCh38): ENSG00000154174
EnsemblGeneIds (GRCh37): ENSG00000154174
OMIM: 606081, Gene2Phenotype
TOMM70 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
De novo mono allelic variants in the C-terminal region of TOMM70 reported in two individuals. While both individuals exhibited shared symptoms including hypotonia, hyperreflexia, ataxia, dystonia, and significant white matter abnormalities, there were differences between the two individuals, most prominently the age of symptom onset, with one experiencing episodes of regression. Some functional data. Note bi-allelic disease also reported in one individual, with features of a mitochondrial disorder.
Sources: LiteratureCreated: 9 May 2020, 1:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
White matter abnormalities; Developmental delay; Regression; Movement disorder
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- White matter abnormalities
- Developmental delay
- Regression
- Movement disorder
- OMIM
- 606081
- Clinvar variants
- Variants in TOMM70
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tomm70 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tomm70 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TOMM70 was added gene: TOMM70 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: TOMM70 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOMM70 were set to 32356556 Phenotypes for gene: TOMM70 were set to White matter abnormalities; Developmental delay; Regression; Movement disorder Review for gene: TOMM70 was set to AMBER