Malformations of cortical development

Gene: FLNA

Green List (high evidence)

FLNA (filamin A)
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 25 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'other' in order to capture variants within this gene in our current tiering pipeline.
Created: 5 Apr 2017, 6:22 a.m.
Added tag for X-linked over dominance.
Created: 3 Apr 2017, 3:58 p.m.

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Gene causes X-linked dominant disease, almost exclusively in females. Very rare in affected males (usually hypomorphic non-truncating mutations or mosaics).
Created: 1 Nov 2016, 1:17 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported at least 16 in Periventricular Heterotopia 300049, 5 in Melnick-Needles syndrome 309350 and 8 in Otopalatodigital syndromes
Created: 1 Nov 2016, 1:08 p.m.
Comment on phenotypes: Variants also reported in Cardiac valvular dysplasia, X-linked 314400, Congenital short bowel syndrome 300048 XLR 3
FG syndrome 2 300321, Frontometaphyseal dysplasia 1 305620, Intestinal pseudoobstruction, neuronal 300048, Terminal osseous dysplasia 300244
Created: 1 Nov 2016, 1:03 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Gene causes X-linked dominant disease, almost exclusively in females. Very rare in affected males (usually hypomorphic non-truncating mutations or mosaics).
Created: 4 Oct 2016, 7:08 p.m.

Mode of inheritance
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Periventricular Heterotopia 300049
  • Melnick-Needles syndrome 309350
  • Otopalatodigital syndrome, type I 311300
  • Otopalatodigital syndrome, type II 304120
Tags
x-linked-over-dominance
OMIM
300017
Clinvar variants
Variants in FLNA
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

5 Apr 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FLNA was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

5 Apr 2017, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for FLNA was changed to Other - please provide details in the comments

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

1 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Nov 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FLNA was changed to Other - please specifiy in evaluation comments

1 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Nov 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FLNA were set to Periventricular Heterotopia 300049; Melnick-Needles syndrome 309350; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120

11 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

FLNA was added to Malformations of cortical developmentpanel. Source: Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

FLNA was added to Malformations of cortical developmentpanel. Sources: UKGTN

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FLNA was created by sleigh