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Intellectual disability syndromic and non-syndromic

Gene: TSFM

Green List (high evidence)

TSFM (Ts translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 3, MIM#610505

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

25037205:
- 1 family: p1 decline cognitive function at 7yo, p2 mild learning difficulties

33816677:
- 1 male 'As a neonate he showed generalized muscular hypotonia, feeding problems and a global developmental delay'

31451716:
- patient 2, p.Gln111ThrfsTer5 and RNA mis-splicing were identified in TSFM - with global developmental delay

22499341:
- homozygous R333W mutation in a 2-month-old girl from Chile with COXPD3 characterized by developmental delay
Created: 28 Sep 2023, 2:11 a.m. | Last Modified: 28 Sep 2023, 2:11 a.m.
Panel Version: 0.5491

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

History Filter Activity

29 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsfm has been classified as Green List (High Evidence).

29 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM#610505

29 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSFM were set to

29 Sep 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSFM was added gene: TSFM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSFM was set to Unknown