Hand and foot malformations

Gene: FLNA

Green List (high evidence)

Heterozygous female phenotypes range from absence of overall symptoms to severe manifestations, most male mutation carriers die prenatally or in the first years of life

Periventricular nodular heterotopia, X-linked cardiac valvular dystrophy, gastrointestinal diseases caused by LoF: truncating (prenatal or neonatally lethal) or distal truncating, hypomorphic missense or mosaic

Oto-palato-digital spectrum by GoF: missense and small in-frame deletions cluster in 4 domains: ABD and filamin repeats 3, 10 and 14/15

X-linked cardiac valvular dystrophy: mostly missense or splice in filamin repeats 1, 4, 5, 6 and 7

Created: 31 Jan 2020, 3:24 a.m. | Last Modified: 31 Jan 2020, 3:24 a.m.

Panel Version: 0.1069

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
?FG syndrome 2, XL; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular, 1; Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia

Publications

• PMID: 30089473