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Intellectual disability syndromic and non-syndromic

Gene: TRIT1

Green List (high evidence)

TRIT1 (tRNA isopentenyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000043514
EnsemblGeneIds (GRCh37): ENSG00000043514
TRIT1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 32088416 summarises the findings from 3 previous publications and presents a new patient, for a total of 8 individuals from 6 families.
Created: 2 Sep 2020, 10:57 a.m. | Last Modified: 2 Sep 2020, 10:57 a.m.
Panel Version: 0.2928

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 35, MIM#617873

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Combined oxidative phosphorylation deficiency 35, MIM#617873
Clinvar variants
Variants in TRIT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trit1 has been classified as Green List (High Evidence).

2 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRIT1 were changed from to Combined oxidative phosphorylation deficiency 35, MIM#617873

2 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRIT1 were set to

2 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRIT1 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: TRIT1 was added gene: TRIT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIT1 was set to Unknown