Gastrointestinal neuromuscular disorders
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic by reviewer. 2 family reports and unrelated singleton in OMIM - these cases all include a 2-bp deletion in exon 2 (6_17delTC rs398122521 and rs80338840 65-66delAC have been reported). Further cases found in literature search PMID: 26059841 - a 4bp deletion in exon 40 identified in two siblings who had atypical clinical courses, such as a lack of PVNH and a spontaneous improvement of CIPO, and PMID: 20871226. PMID: 18854860 - duplications of several genes in the region. Overall, more than 3 family reports.Created: 19 Oct 2016, 10:12 a.m.
Neil shah (GOSH)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Congenital short bowel syndrome, OMIM:300048
- Intestinal pseudoobstruction, neuronal, OMIM:300048
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- Complete
- Publications
-
- 17357080
- 23037936
- 26059841 - the two siblings who had atypical clinical courses, such as a lack of PVNH and a spontaneous improvement of CIPO. A 4-bp deletion in exon 40 was reported, and functional studies revealed that the variant induced in-frame skipping of the mutated exon, which led to the translation of a mutant FLNA missing an internal region of 41 amino acids. "Functional analyses of the mutant protein suggested that its binding affinity to integrin, as well as its capacity to induce focal adhesions, were comparable to those of the wild-type protein. These results suggested that exon skipping of FLNA partially restored its protein function, which could contribute to amelioration of the siblings' clinical courses."
- 20871226
- 18854860
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
- Intellectual disability
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Limb disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Bleeding and platelet disorders
- DDG2P
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Clefting
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- COVID-19 research
- Osteogenesis imperfecta
- Malformations of cortical development
- Hydrocephalus
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNA were changed from Intestinal pseudoobstruction, neuronal 300048; Congenital short bowel syndrome 300048 to Congenital short bowel syndrome, OMIM:300048; Intestinal pseudoobstruction, neuronal, OMIM:300048
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FLNA were set to 17357080; 23037936; 26059841 - the two siblings who had atypical clinical courses, such as a lack of PVNH and a spontaneous improvement of CIPO. A 4-bp deletion in exon 40 was reported, and functional studies revealed that the variant induced in-frame skipping of the mutated exon, which led to the translation of a mutant FLNA missing an internal region of 41 amino acids. "Functional analyses of the mutant protein suggested that its binding affinity to integrin, as well as its capacity to induce focal adhesions, were comparable to those of the wild-type protein. These results suggested that exon skipping of FLNA partially restored its protein function, which could contribute to amelioration of the siblings' clinical courses."; 20871226; 18854860
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FLNA were set to 17357080; 23037936; 26059841 - the two siblings who had atypical clinical courses, such as a lack of PVNH and a spontaneous improvement of CIPO. A 4-bp deletion in exon 40 was reported, and functional studies revealed that the variant induced in-frame skipping of the mutated exon, which led to the translation of a mutant FLNA missing an internal region of 41 amino acids. "Functional analyses of the mutant protein suggested that its binding affinity to integrin, as well as its capacity to induce focal adhesions, were comparable to those of the wild-type protein. These results suggested that exon skipping of FLNA partially restored its protein function, which could contribute to amelioration of the siblings' clinical courses.";20871226
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FLNA were set to 17357080; 23037936; 26059841 - the two siblings who had atypical clinical courses, such as a lack of PVNH and a spontaneous improvement of CIPO. A 4-bp deletion in exon 40 was reported, and functional studies revealed that the variant induced in-frame skipping of the mutated exon, which led to the translation of a mutant FLNA missing an internal region of 41 amino acids. "Functional analyses of the mutant protein suggested that its binding affinity to integrin, as well as its capacity to induce focal adhesions, were comparable to those of the wild-type protein. These results suggested that exon skipping of FLNA partially restored its protein function, which could contribute to amelioration of the siblings' clinical courses."
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FLNA were set to 17357080; 23037936;PMID: 26059841 - the two siblings who had atypical clinical courses, such as a lack of PVNH and a spontaneous improvement of CIPO. A 4-bp deletion in exon 40 was reported, and functional studies revealed that the variant induced in-frame skipping of the mutated exon, which led to the translation of a mutant FLNA missing an internal region of 41 amino acids. "Functional analyses of the mutant protein suggested that its binding affinity to integrin, as well as its capacity to induce focal adhesions, were comparable to those of the wild-type protein. These results suggested that exon skipping of FLNA partially restored its protein function, which could contribute to amelioration of the siblings' clinical courses."
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FLNA were set to Intestinal pseudoobstruction, neuronal 300048; Congenital short bowel syndrome 300048
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FLNA were set to 17357080;23037936
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FLNA were set to 17357080
Added New Source
Sarah Leigh (Genomics England Curator)FLNA was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)FLNA was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)FLNA was created by sleigh