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Severe Paediatric Disorders

Gene: CPT2

Green List (high evidence)

CPT2 (carnitine palmitoyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 17 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CPT2; Recommended initial gene rating: Green List (high evidence); Phenotypes: CPT II deficiency, infantile, 600649 (3) | CPT II deficiency, lethal neonatal, 608836 (3) | CPT II deficiency, myopathic, stress-induced, 255110 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12

Details

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CPT2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CPT2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes CPT II deficiency, lethal neonatal, 608836; CPT II deficiency, infantile, 600649; CPT II deficiency, myopathic, stress-induced, 255110 for gene: CPT2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CPT2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CPT2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CPT2 was added gene: CPT2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CPT2 was set to