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Optic neuropathy

Gene: TSFM

Red List (low evidence)
TSFM (Ts translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 13 panels

1 review

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505

Publications

Created: 19 Mar 2019, 3:33 p.m.

Panel version: 1.28

History Filter Activity

19 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TSFM were changed from to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505

19 Mar 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TSFM were set to

19 Mar 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: TSFM was added gene: TSFM was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TSFM was set to