Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Mitochondrial disease
Gene: PUS1

PUS1 (pseudouridylate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported with a multi-system mitochondrial disorder.
Created: 14 Sep 2020, 7:51 a.m. | Last Modified: 14 Sep 2020, 7:51 a.m.

Panel Version: 0.4413

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462

Publications

Created: 14 Sep 2020, 7:51 a.m.
Last Modified: 14 Sep 2020, 7:51 a.m.
Panel version: 0.936

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship
Victorian Clinical Genetics Services

Phenotypes

Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462

OMIM

Clinvar variants

Variants in PUS1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PUS1 were changed from Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pus1 has been classified as Green List (High Evidence).

5 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462

5 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PUS1 were set to

5 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PUS1 was added gene: PUS1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: PUS1 was set to Unknown