Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Mitochondrial disorder with complex I deficiency
Gene: TIMMDC1

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

5 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, 11:34 a.m. | Last Modified: 1 Feb 2023, 11:34 a.m.

Panel Version: 2.3

Created: 1 Feb 2023, 11:34 a.m.
Last Modified: 1 Feb 2023, 11:34 a.m.
Panel version: 2.3

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.
Created: 30 Aug 2022, 9:28 a.m. | Last Modified: 30 Aug 2022, 9:28 a.m.

Panel Version: 1.18

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: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Aug 2022, 9:08 a.m.
Last Modified: 30 Aug 2022, 9:08 a.m.
Panel version: 1.18

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 3 unrelated families but all with the same deep intronic variant; functional studies
Created: 10 May 2019, 9:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 31, 618251

Publications

28604674

Created: 10 May 2019, 9:50 a.m.

Panel version: 0.36

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 10:25 a.m.

Comment on list classification: Demoted from Green to Amber after discussion on the on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019.
Created: 25 Feb 2019, 4:51 p.m.

Comment on publications: PMID: 28604674 - 3 unrelated cases with the same intronic variant and expression data.
Created: 25 Feb 2019, 1:06 p.m.

Created: 25 Feb 2019, 1:06 p.m.

Panel version: 0.6

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: TIMMDC1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 31, 618251

Created: 1 Feb 2019, 4:29 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

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, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: TIMMDC1. Tag Q3_22_NHS_review was removed from gene: TIMMDC1.

1 Feb 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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 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

30 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TIMMDC1 were set to 28604674

26 Aug 2022, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: TIMMDC1. Tag Q3_22_NHS_review tag was added to gene: TIMMDC1.

10 May 2019, Gel status: 2