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Arthrogryposis

Gene: PFKM

Green List (high evidence)

PFKM (phosphofructokinase, muscle)
EnsemblGeneIds (GRCh38): ENSG00000152556
EnsemblGeneIds (GRCh37): ENSG00000152556
OMIM: 610681, Gene2Phenotype
PFKM is in 12 panels

1 review

Alice Gardham (Genomics England)

Comment on list classification: Around 60% of those with infantile form have arthrogryposis
Created: 5 Jan 2017, 12:23 p.m.

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for PFKM was changed to BIALLELIC, autosomal or pseudoautosomal

5 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for PFKM were set to Glycogen storage disease VII 232800

5 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for PFKM were set to 26108272

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PFKM was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PFKM was created by ellenmcdonagh