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Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Marked gene: ETFDH as ready
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Gene: etfdh has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.173 ETFDH Ellen McDonagh Classified gene: ETFDH as Red List (low evidence)
Limb girdle muscular dystrophy 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 dystrophy v1.173 ETFDH Ellen McDonagh Gene: etfdh has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.97 ETFDH Chiara Marini Bettolo reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.86 ETFDH Louise Daugherty Source NHS GMS was added to ETFDH.
Limb girdle muscular dystrophy v1.85 ETFDH Louise Daugherty Source Yorkshire and North East GLH was added to ETFDH.
Limb girdle muscular dystrophy 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
Limb girdle muscular dystrophy 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 dystrophy 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