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Cytopenias and congenital anaemias

Gene: PFKM

Green List (high evidence)

PFKM (phosphofructokinase, muscle)
EnsemblGeneIds (GRCh38): ENSG00000152556
EnsemblGeneIds (GRCh37): ENSG00000152556
OMIM: 610681, Gene2Phenotype
PFKM is in 14 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Tarui disease; Muscle phosphofructokinase deficiency; GSD type VII
Created: 9 Mar 2017, 11:45 a.m.

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status to Green due to evidence in the literature
Created: 2 Mar 2017, 10:58 a.m.
Comment on publications: Evidence in literature for more than 3 unrelated cases
Created: 2 Mar 2017, 10:57 a.m.
Comment on phenotypes: added phenotypes from OMIM
Created: 2 Mar 2017, 10:47 a.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enzyme Disorder; Glycogen storage disease

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Glycogen storage disease VII, 232800
OMIM
610681
Clinvar variants
Variants in PFKM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PFKM were set to Glycogen storage disease VII, 232800

2 Mar 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

PFKM was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PFKM were set to 7513946;7479776;8889589

2 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PFKM were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease VII, 232800;Tarui disease;Muscle phosphofructokinase deficiency;GSD type VII

2 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PFKM were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease VII, 232800

2 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PFKM were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease VII,232800

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PFKM was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PFKM was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)