Intestinal failure or congenital diarrhoea

Gene: FLNA

Green List (high evidence)

FLNA (filamin A)
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 27 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Female carriers do not exhibit gastrointestinal defects indicating XLR inheritance
Created: 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)

Green List (high evidence)

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: Literature
Created: 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

History Filter Activity

3 Mar 2022, Gel status: 3

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.

3 Mar 2022, Gel status: 3

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)

12 Jul 2021, Gel status: 2

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

12 Jul 2021, Gel status: 2

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

23 Mar 2021, Gel status: 2

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.

23 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: flna has been classified as Amber List (Moderate Evidence).

23 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FLNA were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:300048

23 Mar 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596

16 Mar 2021, Gel status: 0

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