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Arthrogryposis

Gene: CPT2

Red List (low evidence)
CPT2 (carnitine palmitoyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 15 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: No clear association with arthrogryposis
Created: 4 Jan 2017, 10:06 a.m.
Created: 4 Jan 2017, 10:06 a.m.

Panel version: 1.120

History Filter Activity

12 Jan 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CPT2 were changed from Myopathy due to CPT II deficiency, 255110 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836

16 Jan 2017, Gel status: 1

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.

4 Jan 2017, 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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CPT2 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CPT2 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CPT2 was created by ellenmcdonagh