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Non-Fanconi anaemia

Gene: PUS1

Amber List (moderate evidence)
PUS1 (pseudouridylate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 11 panels

1 review

Helen Savage (Congenica Ltd)

I don't know

Homozygous mutations in PUS1 reported in 3 independent families.
Created: 26 Jan 2016, 4:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial myopathy and sideroblastic anaemia type I

Publications

Created: 26 Jan 2016, 4:37 p.m.

Panel version: 0.228

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia
  • Mitochondrialmyopathyandsideroblasticanemia1,600462
OMIM
608109
Clinvar variants
Variants in PUS1
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PUS1 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PUS1 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PUS1 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PUS1 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PUS1 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PUS1 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PUS1 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PUS1 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PUS1 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PUS1 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PUS1 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen