Genomics England
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Barth syndrome (Version: )

Relevant disorders: R391, GT423, TP135
Signed off date: 12 Aug 2026
Panel types: GMS Rare Disease, GMS signed-off
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1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
TAZ
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name