Intestinal failure or congenital diarrhoea
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Female carriers do not exhibit gastrointestinal defects indicating XLR inheritanceCreated: 12 Jul 2021, 11:37 a.m. | Last Modified: 12 Jul 2021, 11:37 a.m.
Panel Version: 1.42
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:36 p.m. | Last Modified: 3 Mar 2022, 4:36 p.m.
Panel Version: 1.46
Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 23 Mar 2021, 8:51 a.m. | Last Modified: 23 Mar 2021, 8:51 a.m.
Panel Version: 1.12
Miranda Durkie (Genetics)
Congenital short bowel not included in other panels - overlap with intestinal failure presentation
PMID: 23037936 - affected males in 2 families
PMID: 33464596 - 1 affected male
Sources: LiteratureCreated: 16 Mar 2021, 12:35 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
Congenital short bowel
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital short bowel syndrome, OMIM:300048
- Intestinal pseudoobstruction, neuronal, OMIM:300048
- ?FG syndrome 2, OMIM:300321
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Thoracic aortic aneurysm or dissection (GMS)
- Early onset or syndromic epilepsy
- Familial non syndromic congenital heart disease
- Bleeding and platelet disorders
- Limb disorders
- DDG2P
- Intellectual disability
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- COVID-19 research
- Osteogenesis imperfecta
- Clefting
- Malformations of cortical development
- Hydrocephalus
History Filter Activity
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating was removed from gene: FLNA. Tag Q2_21_NHS_review was removed from gene: FLNA.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to FLNA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNA were changed from Congenital short bowel syndrome, OMIM:300048 to Congenital short bowel syndrome, OMIM:300048; Intestinal pseudoobstruction, neuronal, OMIM:300048; ?FG syndrome 2, OMIM:300321
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: FLNA. Tag Q2_21_NHS_review tag was added to gene: FLNA.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: flna has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FLNA were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:300048
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Miranda Durkie (Genetics)gene: FLNA was added gene: FLNA was added to Intestinal failure. Sources: Literature 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 PMID: 23037936; PMID: 23873601; PMID: 33464596 Phenotypes for gene: FLNA were set to Congenital short bowel Penetrance for gene: FLNA were set to unknown Review for gene: FLNA was set to GREEN