Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FLNA
Fennell et al summarise 6 cases (3 female, 3 male) with CSS, OPD spectrum disorder and FLNA variants - 5 had MSS. Rare complication. LOF/fs associated with non-skeletal phenotypes, eg PVNH ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
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
frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FLNA; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment on mode of pathogenicity: Definite but low frequency association of various type A filaminopathies with gain-of-function pathophysiology (loss of function associated with periventricular nodular heterotopia)Created: 1 Feb 2016, 11:09 a.m.
Definite but low frequency association of various type A filaminopathies with gain-of-function pathophysiology (loss of function associated with periventricular nodular heterotopia)Created: 14 Sep 2015, 12:06 p.m.
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
frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: FLNA were changed from frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome to Frontometaphyseal dysplasia 1, OMIM:305620; Melnick-Needles syndrome, OMIM:309350; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120
Source NHS GMS was added to FLNA. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for FLNA were set to frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome
Publications for FLNA were set to 25873011
Mode of pathogenicity for FLNA was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of pathogenicity for FLNA was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for FLNA was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
FLNA was added to Craniosynostosis syndromespanel. Sources: Expert list