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Research panel - Severe Paediatric Disorders

Gene: TIMM8A

Green List (high evidence)
TIMM8A (translocase of inner mitochondrial membrane 8A)
EnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 16 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TIMM8A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mohr-Tranebjaerg syndrome, 304700 (3); Mode of inheritance: X-linked recessive
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:26 p.m.
Last Modified: 20 Feb 2020, 5:26 p.m.
Panel version: 0.12

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TIMM8A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TIMM8A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TIMM8A. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TIMM8A was added gene: TIMM8A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TIMM8A was set to