Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: ETFDHComment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:26 p.m. | Last Modified: 28 Nov 2019, 5:26 p.m.
Panel Version: 1.173
Glutaric acidemia. Variable phenotype. Severe in infants. Early teens to adults present with proximal muscle weakness, cramps, rasied CK and vacuolar myopathy.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
Glutaric acidemia IIC, 231680; Glutaric acidemia IIA, 231680; Glutaric acidemia IIB, 231680
Publications
Gene: etfdh has been classified as Red List (Low Evidence).
Gene: etfdh has been classified as Red List (Low Evidence).
Source NHS GMS was added to ETFDH.
Source Yorkshire and North East GLH was added to ETFDH.
Mode of inheritance for gene ETFDH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glutaric acidemia IIC, 231680; Glutaric acidemia IIA, 231680; Glutaric acidemia IIB, 231680 for gene: ETFDH Publications for gene ETFDH were changed from to 17412732
gene: ETFDH was added gene: ETFDH was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: ETFDH was set to