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Severe Paediatric Disorders

Gene: FLNA

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FLNA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiac valvular dysplasia, X-linked, 314400 (3) | Congenital short bowel syndrome, 300048 (3) | ?FG syndrome 2, 300321 (3) | Frontometaphyseal dysplasia 1, 305620 (3) | Heterotopia, periventricular, 1, 300049 (3) | Intestinal pseudoobstruction, neuronal, 300048 (3) | Melnick-Needles syndrome, 309350 (3) | Otopalatodigital syndrome, type I, 311300 (3) | Otopalatodigital syndrome, type II, 304120 (3) | Terminal osseous dysplasia, 300244 (3); Mode of inheritance: X-linked | X-linked recessive | X-linked | X-linked recessive | X-linked dominant | X-linked recessive | X-linked dominant | X-linked dominant | X-linked dominant | X-linked dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

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
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Melnick-Needles syndrome, 309350
  • Congenital short bowel syndrome, 300048
  • Terminal osseous dysplasia, 300244
  • Intestinal pseudoobstruction, neuronal, 300048
  • ?FG syndrome 2, 300321
  • Otopalatodigital syndrome, type II, 304120
  • Heterotopia, periventricular, 1, 300049
  • Cardiac valvular dysplasia, X-linked, 314400
  • Frontometaphyseal dysplasia 1, 305620
  • Otopalatodigital syndrome, type I, 311300
OMIM
300017
Clinvar variants
Variants in FLNA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FLNA were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital short bowel syndrome, 300048; Melnick-Needles syndrome, 309350; Terminal osseous dysplasia, 300244; Intestinal pseudoobstruction, neuronal, 300048; ?FG syndrome 2, 300321; Otopalatodigital syndrome, type II, 304120; Heterotopia, periventricular, 1, 300049; Cardiac valvular dysplasia, X-linked, 314400; Frontometaphyseal dysplasia 1, 305620; Otopalatodigital syndrome, type I, 311300 for gene: FLNA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital short bowel syndrome, 300048; Melnick-Needles syndrome, 309350; Terminal osseous dysplasia, 300244; Intestinal pseudoobstruction, neuronal, 300048; ?FG syndrome 2, 300321; Otopalatodigital syndrome, type II, 304120; Heterotopia, periventricular, 1, 300049; Cardiac valvular dysplasia, X-linked, 314400; Frontometaphyseal dysplasia 1, 305620; Otopalatodigital syndrome, type I, 311300 for gene: FLNA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital short bowel syndrome, 300048; Melnick-Needles syndrome, 309350; Terminal osseous dysplasia, 300244; Intestinal pseudoobstruction, neuronal, 300048; ?FG syndrome 2, 300321; Otopalatodigital syndrome, type II, 304120; Heterotopia, periventricular, 1, 300049; Cardiac valvular dysplasia, X-linked, 314400; Frontometaphyseal dysplasia 1, 305620; Otopalatodigital syndrome, type I, 311300 for gene: FLNA

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Frontometaphyseal dysplasia 1, 305620; Heterotopia, periventricular, 1, 300049; Otopalatodigital syndrome, type II, 304120; Terminal osseous dysplasia, 300244; Otopalatodigital syndrome, type I, 311300; Intestinal pseudoobstruction, neuronal, 300048; Melnick-Needles syndrome, 309350; Congenital short bowel syndrome, 300048; Cardiac valvular dysplasia, X-linked, 314400; ?FG syndrome 2, 300321 for gene: FLNA

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to FLNA.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to FLNA. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: FLNA was added gene: FLNA was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FLNA was set to