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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 | ETFDH | Ellen McDonagh Marked gene: ETFDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 | ETFDH | Ellen McDonagh Gene: etfdh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 | ETFDH | Ellen McDonagh Classified gene: ETFDH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 | ETFDH | Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 | ETFDH | Ellen McDonagh Gene: etfdh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | ETFDH | Chiara Marini Bettolo reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | ETFDH | Louise Daugherty Source NHS GMS was added to ETFDH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | ETFDH | Louise Daugherty Source Yorkshire and North East GLH was added to ETFDH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | ETFDH |
Louise Daugherty 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 |
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | ETFDH | Ana Topf reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 17412732; Phenotypes: Glutaric acidemia IIC, 231680, Glutaric acidemia IIA, 231680, Glutaric acidemia IIB, 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | ETFDH |
Louise Daugherty 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 |