Clefting
Gene: FLNAComment when marking as ready: Marked as green as clefting is a common enough feature and the other features can be subtleCreated: 31 May 2017, 2:36 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
OTOPALATODIGITAL SYNDROME, TYPE I; OPD1, OTOPALATODIGITAL SYNDROME, TYPE II; OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1
Comment on list classification: Changed status to Green clefting is a common enough feature and the other features can be subtleCreated: 9 Feb 2017, 2:30 p.m.
Comment on list classification: Evidence for this to be Green if phenotypes are relevant for this panelCreated: 27 Jan 2017, 11:32 a.m.
Comment on phenotypes: added disorders with a known Gene-Phenotype that include clinical presentation for clefting as panel represents syndromic and non-syndromic cleft lip and or cleft palate.Created: 25 Jan 2017, 12:33 p.m.
FLNA causes a spectrum of disorders. It is not a main cause of orofacial clefting.Created: 8 Dec 2016, 10:44 a.m.
Phenotypes
Orofacial clefting with skeletal anomalies
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: FLNA were changed from Orofacial Clefting with skeletal anomalies; Otopalatodigital syndrome, type I, 311300 (includes clefting); Otopalatodigital syndrome, type II, 304120 (includes clefting); Melnick-Needles syndrome, 309350 (includes clefting); OTOPALATODIGITAL SYNDROME, TYPE I; OPD1, OTOPALATODIGITAL SYNDROME, TYPE II; OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1 to Frontometaphyseal dysplasia 1, OMIM:305620; Melnick-Needles syndrome, OMIM:309350; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
FLNA was added to Cleftingpanel. Source: Expert Review Green
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for FLNA were set to 10706363; 20301567;16538226;12612583
Phenotypes for FLNA were set to Orofacial Clefting with skeletal anomalies; Otopalatodigital syndrome, type I, 311300 (includes clefting);Otopalatodigital syndrome, type II, 304120 (includes clefting);Melnick-Needles syndrome, 309350 (includes clefting)
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)
Mode of inheritance for FLNA was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
FLNA was created by oniblock
FLNA was added to Cleftingpanel. Sources: UKGTN