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Intellectual disability

Gene: PUS1

Green List (high evidence)

PUS1 (pseudouridylate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 12 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: ID is reported in several patients, however others have been noted to have normal intelligence. Borderline, but in view of the relatively inclusive aim of the panel, rated as green.
Created: 21 Dec 2017, 1:52 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Main presenting clinical features are sideroblastic anaemia and cognitive impairment in childhood. More than four unrelated cases for mild intellectual disability but not found in all patients. Discussed with clinical team who agreed that ID is a reported feature, although in the minority, and although sideroblastic anaemia / lactic acidosis may cause the majority to present it is probably worth including on the ID panel. For those with VUSs there would be additional tests to support or refute the diagnosis.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462; Mitochondrial myopathy and sideroblastic anemia 1; MLASA; Intellectual disability

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462
  • Mitochondrial myopathy and sideroblastic anemia 1
  • MLASA
  • Intellectual disability
OMIM
608109
Clinvar variants
Variants in PUS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to PUS1. Panel: Intellectual disability Model of inheritance for gene PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene PUS1 was set to ['28832011', '26556812', '25037980', '25227147', '21686963']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PUS1 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PUS1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen