Intestinal failure or congenital diarrhoea
Gene: FLNAComment 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
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
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
Tag Q2_21_rating was removed from gene: FLNA. Tag Q2_21_NHS_review 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)
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
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
Tag Q2_21_rating tag was added to gene: FLNA. Tag Q2_21_NHS_review tag was added to gene: FLNA.
Gene: flna has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: FLNA were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:300048
Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596
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