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DDG2P

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease JENSEN SYNDROME, OMIM:311150 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: 31903733).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
JENSEN SYNDROME, OMIM:311150

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.
Panel Version: 1.131
Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.
Panel Version: 1.76
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME.
Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating: both DD and IF (for all listed disorders).
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 1.131

History Filter Activity

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: TIMM8A were updated from to 31903733

12 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: both DD

29 Jan 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MOHR-TRANEBJAERG SYNDROME 304700 for gene: TIMM8A

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TIMM8A was added gene: TIMM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME 311150