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Possible mitochondrial disorder - nuclear genes

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

3 reviews

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, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 31, 618251

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Single report of 3 unrelated cases with SAME INTRONIC VARIANT and expression data but no other functional work. Demoted from Green to Amber after discussion on the on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019.
Created: 29 Mar 2019, 4:54 p.m.

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.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 31, 618251

Details

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

History Filter Activity

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: timmdc1 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: TIMMDC1 was added gene: TIMMDC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251