Limb girdle muscular dystrophy

Gene: CPT2

Green List (high evidence)

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 5:14 p.m. | Last Modified: 28 Nov 2019, 5:14 p.m.
Panel Version: 1.160
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Created: 28 Nov 2019, 5:13 p.m. | Last Modified: 28 Nov 2019, 5:13 p.m.
Panel Version: 1.159

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

metabolic myoapthy, can present with high CK - differential diagnosis with LGMD
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
metabolic myopathy

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPT II deficiency, infantile, 600649

Publications

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cpt2 has been classified as Green List (High Evidence).

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cpt2 has been classified as Green List (High Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CPT2.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CPT2.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile, 600649 to CPT II deficiency, infantile, 600649; metabolic myopathy

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CPT II deficiency, infantile, 600649 for gene: CPT2 Publications for gene CPT2 were changed from to 1528846; 8651281

17 Apr 2019, 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 Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: CPT2 was set to