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  3. TIMMDC1
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Likely inborn error of metabolism

Gene: TIMMDC1

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
Created: 1 Feb 2023, 10:24 a.m.
Last Modified: 1 Feb 2023, 10:24 a.m.
Panel version: 3.6

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R353 and R63). As there was sufficient supporting evidence for the change, the rating should also be updated to Green on this panel at the next GMS review. At least five individuals reported, including three unrelated patients with the same homozygous intronic variant and two brothers with different compound heterozygous variants in this gene (PMIDs: 28604674; 33278652).
Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 2.265

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251

Publications

Created: 30 Aug 2022, 9:08 a.m.
Last Modified: 30 Aug 2022, 9:08 a.m.
Panel version: 2.265

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
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 Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251
OMIM
615534
Clinvar variants
Variants in TIMMDC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: TIMMDC1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to TIMMDC1. Source Expert Review Green was added to TIMMDC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TIMMDC1 were set to 28604674

30 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TIMMDC1 were changed from Mitochondrial complex I deficiency, nuclear type 31, 618251 to Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251

26 Aug 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: TIMMDC1.

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