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Childhood interstitial lung disease v0.5 FLNA Achchuthan Shanmugasundram commented on gene: FLNA: FLNA has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.2 FLNA Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: heterotopia, periventricular, X-linked dominant, MONDO:0010233, Heterotopia, periventricular, 1, OMIM:300049; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Childhood interstitial lung disease v0.1 FLNA Achchuthan Shanmugasundram gene: FLNA was added
gene: FLNA was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FLNA were set to heterotopia, periventricular, X-linked dominant, MONDO:0010233; Heterotopia, periventricular, 1, OMIM:300049