Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: TIMM44

Red List (low evidence)

TIMM44 (translocase of inner mitochondrial membrane 44)
EnsemblGeneIds (GRCh38): ENSG00000104980
EnsemblGeneIds (GRCh37): ENSG00000104980
OMIM: 605058, Gene2Phenotype
TIMM44 is in 3 panels

1 review

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature
Created: 4 Feb 2016, 9:29 p.m.


Mode of Inheritance
  • Expert Review Red
  • No OMIM phenotype
Clinvar variants
Variants in TIMM44
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TIMM44 was added gene: TIMM44 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TIMM44 was set to Unknown Phenotypes for gene: TIMM44 were set to No OMIM phenotype