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Inborn errors of metabolism

Gene: TIMMDC1

Amber List (moderate evidence)

TIMMDC1 (translocase of inner mitochondrial membrane domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000113845
EnsemblGeneIds (GRCh37): ENSG00000113845
OMIM: 615534, Gene2Phenotype
TIMMDC1 is in 4 panels

1 review

Catherine Snow (Genomics England)

Relevant Amber review from expert on panel - Mitochondrial disorder with complex I deficiency (Version 1.0)
Created: 18 Nov 2019, 4:06 p.m. | Last Modified: 18 Nov 2019, 4:06 p.m.
Panel Version: 1.406

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 31, 618251
OMIM
615534
Clinvar variants
Variants in TIMMDC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: TIMMDC1 was added gene: TIMMDC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIMMDC1 were set to 28604674 Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251