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Lactic acidosis

Gene: PUS1

No list

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

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review recommended that the mitochondrial panel be applied.
Created: 8 Feb 2016, 9:40 a.m.


History Filter Activity

8 Feb 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PUS1 was added to Lactic acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services