Prepair 500+
Gene: FLNA
Range of phenotype with connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Male patients more severely affected than female patients, including prenatal lethality in males.
Phenotype in females are variable, including unaffected carriers (GeneReviews)Created: 21 Jan 2025, 3:32 a.m. | Last Modified: 21 Jan 2025, 3:32 a.m.
Panel Version: 1.1257
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Cardiac valvular dysplasia, X-linked, MIM#314400, Congenital short bowel syndrome, MIM#300048; Frontometaphyseal dysplasia 1, MIM#305620; Heterotopia, periventricular, 1, MIM#300049; Intestinal pseudoobstruction, neuronal, MIM#300048; Melnick-Needles syndrome, MIM#309350; Otopalatodigital syndrome, type I, MIM#311300; Otopalatodigital syndrome, type II, MIM#304120; Terminal osseous dysplasia, MIM#300244
Publications
Gene: flna has been classified as Green List (High Evidence).
Phenotypes for gene: FLNA were changed from FG syndrome 2, 300321 (3) to Frontometaphyseal dysplasia 1, MIM#305620; Heterotopia, periventricular, 1, MIM#300049; Intestinal pseudoobstruction, neuronal, MIM#300048; Melnick-Needles syndrome, MIM#309350; Otopalatodigital syndrome, type I, MIM#311300; Otopalatodigital syndrome, type II, MIM#304120; Terminal osseous dysplasia, MIM#300244
Publications for gene: FLNA were set to
gene: FLNA was added gene: FLNA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3)