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Familial non syndromic congenital heart disease v1.63 | FLNA | Arina Puzriakova Publications for gene: FLNA were set to 17190868, 8230166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial non syndromic congenital heart disease v1.62 | FLNA |
Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'X-LINKED... biallelic mutations in females' to 'X-LINKED... monoallelic mutations in females may cause disease'. Heterozygous females are more mildly affected than hemizygous males, but some healthy female carriers have also been described. |
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Familial non syndromic congenital heart disease v1.62 | FLNA | Arina Puzriakova Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial non syndromic congenital heart disease v1.61 | FLNA | Arina Puzriakova Phenotypes for gene: FLNA were changed from Cardiac valvular dysplasia, X-linked 314400 to Cardiac valvular dysplasia, X-linked, OMIM:314400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial non syndromic congenital heart disease | FLNA | Alice Gardham classified FLNA as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial non syndromic congenital heart disease | FLNA | Alice Gardham marked FLNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial non syndromic congenital heart disease | FLNA | Alice Gardham added FLNA to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial non syndromic congenital heart disease | FLNA | Alice Gardham reviewed FLNA |