Fetal anomalies
Gene: FLNA
Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizgyous likely-pathogenic variant in FLNA in a case where the main ultrasound finding was CNS malformations (Table 1). A heterozygous variant in PTPN11 was also reported, which the authors classify as a Possible result.Created: 24 May 2019, 10:53 a.m.
Additional evidence from PMID:30712878: De novo variant identified in FLNA from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).Created: 18 Apr 2019, 3:57 p.m.
Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).Created: 18 Apr 2019, 3:51 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for OTOPALATODIGITAL SYNDROME TYPE 1, Confirmed for EPILEPTIC ENCEPHALOPATHY, Confirmed for TERMINAL OSSEOUS DYSPLASIA, Confirmed for MELNICK-NEEDLES SYNDROME, Confirmed for X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, Confirmed for OTOPALATODIGITAL SYNDROME TYPE 2, Confirmed for FRONTOMETAPHYSEAL DYSPLASIA, Confirmed for FG SYNDROME TYPE 2 and Confirmed for PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1.Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOI listed as Hemizgyous for OTOPALATODIGITAL SYNDROME TYPE 1,TERMINAL OSSEOUS DYSPLASIA, X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, OTOPALATODIGITAL SYNDROME TYPE 2, FRONTOMETAPHYSEAL DYSPLASIA and FG SYNDROME TYPE 2. In the original PAGE file, MOI listed as X-linked dominant for EPILEPTIC ENCEPHALOPATHY, MELNICK-NEEDLES SYNDROME, and PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1. In the original PAGE file, MOP listed as LOF for TERMINAL OSSEOUS DYSPLASIA, X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, and PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1. MOP listed as All missense/in frame for EPILEPTIC ENCEPHALOPATHY. MOP listed as Uncertain for OTOPALATODIGITAL SYNDROME TYPE 1, MELNICK-NEEDLES SYNDROME, OTOPALATODIGITAL SYNDROME TYPE 2, FRONTOMETAPHYSEAL DYSPLASIA and FG SYNDROME TYPE 2.Created: 8 Nov 2018, 4:45 p.m.
Phenotypes
CNS malformations
Publications
Publications for gene: FLNA were set to
Added phenotypes PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1 for gene: FLNA
Added phenotypes FG SYNDROME TYPE 2 for gene: FLNA
Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA for gene: FLNA
Added phenotypes OTOPALATODIGITAL SYNDROME TYPE 2 for gene: FLNA
Added phenotypes X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION for gene: FLNA
Added phenotypes MELNICK-NEEDLES SYNDROME for gene: FLNA
Added phenotypes TERMINAL OSSEOUS DYSPLASIA for gene: FLNA
Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: FLNA
gene: FLNA was added gene: FLNA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype 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) Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME TYPE 1