Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: CPT2EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 15 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)
metabolic myoapthy, can present with high CK - differential diagnosis with LGMDCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
- Phenotypes
-
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
- OMIM
- 600650
- Clinvar variants
- Variants in CPT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Arthrogryposis
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Ductal plate malformation
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Fetal anomalies
- Acute rhabdomyolysis
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile, 600649; metabolic myopathy to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cpt2 has been classified as Green List (High Evidence).
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
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cpt2 has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CPT2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to CPT2.
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
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
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