Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: CPT2Comment 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
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
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
Gene: cpt2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: cpt2 has been classified as Green List (High Evidence).
Source NHS GMS was added to CPT2.
Source Yorkshire and North East GLH was added to CPT2.
Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile, 600649 to CPT II deficiency, infantile, 600649; metabolic myopathy
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
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