Arthrogryposis
Gene: FLNAThe rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 11 Mar 2022, 1:41 p.m. | Last Modified: 11 Mar 2022, 1:41 p.m.
Panel Version: 3.154
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant disorder on OMIM and G2P. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 12 Jul 2021, 12:38 p.m. | Last Modified: 12 Jul 2021, 12:38 p.m.
Panel Version: 3.108
Contractures are part of the phenotype of some FLNA-related disorders, in particular otopalatodigital syndrome and terminal osseous dysplasia.
Sources: Expert listCreated: 11 Jul 2020, 7:57 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
FLNA-related disorders; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244
Publications
Tag Q3_21_rating was removed from gene: FLNA.
Source Expert Review Green was added to FLNA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: FLNA were changed from FLNA-related disorders; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244 to Frontometaphyseal dysplasia 1, OMIM:305620; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120; Terminal osseous dysplasia, OMIM:300244
Gene: flna has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: FLNA.
gene: FLNA was added gene: FLNA was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to 26804200; 30561107; 20301567 Phenotypes for gene: FLNA were set to FLNA-related disorders; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244 Review for gene: FLNA was set to GREEN