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Intellectual disability syndromic and non-syndromic

Gene: PUS1

Green List (high evidence)

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. DD/ID is part of the phenotype.
Created: 5 Oct 2024, 10:55 p.m. | Last Modified: 5 Oct 2024, 10:55 p.m.
Panel Version: 0.6447

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
OMIM
608109
Clinvar variants
Variants in PUS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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 BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PUS1 was set to Unknown