FLNA

filamin A
OMIM: 300017, Gene2Phenotype

26 panels

Panel Reviews Mode of inheritance Details
26 panels

Red FLNA in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Green FLNA in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.13

review 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
  • Other
Phenotypes
  • Melnick-Needles syndrome, 309350

Red FLNA in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

review Not set
Sources
  • Literature

Green FLNA in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.14

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Intestinal pseudoobstruction, neuronal 300048
  • Congenital short bowel syndrome 300048

Amber FLNA in Hydrocephalus


Version 2.106
Latest signed off version: v2.3 (2 Mar 2020)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Otopalatodigital syndrome, type II, OMIM:304120

Green FLNA in Limb disorders


Version 2.42
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review 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
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Frontometaphyseal dysplasia 305620 XLR
    • Melnick-Needles syndrome, 309350
    • Osteodysplasty Melnick Needles 309350 XLD
    • Otopalatodigital syndrome, type II 304120 XLD
    • Terminal osseous dysplasia 300244

    Amber FLNA in Intestinal failure


    Version 1.40
    Latest signed off version: v1.2 (4 Mar 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital short bowel syndrome, OMIM:300048
    Tags
    • Q2_21_rating
    • Q2_21_NHS_review

    Red FLNA in Pigmentary skin disorders


    Version 1.10
    Latest signed off version: v1.4 (15 Oct 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Terminal osseous dysplasia with pigmentary defects

    Green FLNA in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.159

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • Macrothrombocytopenia

    Green FLNA in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.44
    Latest signed off version: v2.2 (25 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • review 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

    Green FLNA in Familial non syndromic congenital heart disease

    Level 3: Congenital heart disease
    Level 2: Cardiovascular disorders
    Version 1.60

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Cardiac valvular dysplasia, X-linked 314400

    Green FLNA in Thoracic aortic aneurysm and dissection


    Version 1.12
    Latest signed off version: v1.2 (19 Feb 2020)

    review 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
    • South West GLH
    • London South GLH
    • South West GLH
    • London South GLH
    Phenotypes
    • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
    • Cardiac valvular dysplasia, X-linked 314400

    Green FLNA in Thoracic aortic aneurysm or dissection

    Level 3: Connective tissue disorders and aortopathies
    Level 2: Cardiovascular disorders
    Version 1.118

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Green
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders

    No list FLNA in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.104
    Latest signed off version: v3.2 (13 Feb 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert list
    Phenotypes
    • FLNA-related disorders
    • Otopalatodigital syndrome, type I 311300
    • Otopalatodigital syndrome, type II 304120
    • Terminal osseous dysplasia 300244

    Green FLNA in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.101
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Terminal osseous dysplasia 300244
    • Otopalatodigital syndrome, type II -304120
    • Otopalatodigital syndrome, type II 304120 XLD
    • Otopalatodigital syndrome, type I -311300
    • Melnick Needles syndrome 309350
    • Frontometaphyseal dysplasia 305620
    • Frontometaphyseal dysplasia 305620 XLR
    • Osteodysplasty Melnick Needles 309350 XLD

    Amber FLNA in Bleeding and platelet disorders


    Version 1.26
    Latest signed off version: v1.2 (3 Mar 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • (NO OMIM NUMBER)
    • Macrothrombocytopenia
    Tags
    • for-review

    Red FLNA in Cytopenia - NOT Fanconi anaemia


    Version 1.37
    Latest signed off version: v1.29 (15 Oct 2020)

    review Unknown
    Sources
    • Expert Review Red
    • Expert review Red
    • NHS GMS
    • North West GLH
    • London South GLH
    • Yorkshire and North East GLH
    • Wessex and West Midlands GLH

    Red FLNA in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.57
    Latest signed off version: v2.3 (4 Mar 2020)

    review Not set
    Sources
    • Expert list
    • Emory Genetics Laboratory

    Green FLNA in Fetal anomalies


    Version 1.678
    Latest signed off version: v1.92 (21 Aug 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TERMINAL OSSEOUS DYSPLASIA
    • OTOPALATODIGITAL SYNDROME TYPE 1
    • EPILEPTIC ENCEPHALOPATHY
    • MELNICK-NEEDLES SYNDROME
    • PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1
    • FG SYNDROME TYPE 2
    • X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION
    • OTOPALATODIGITAL SYNDROME TYPE 2
    • FRONTOMETAPHYSEAL DYSPLASIA

    Green FLNA in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.23
    Latest signed off version: v2.2 (13 Feb 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • frontometaphyseal dysplasia
    • oto-palato-digital syndromes
    • melnick-needles syndrome

    No list FLNA in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.14
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed

    Green FLNA in DDG2P


    Version 2.28
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049
    • FRONTOMETAPHYSEAL DYSPLASIA 305620
    • FG SYNDROME TYPE 2 300321
    • X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048
    • MELNICK-NEEDLES SYNDROME 309350
    • Childhood Interstitial Lung Disease
    • EPILEPTIC ENCEPHALOPATHY
    • OTOPALATODIGITAL SYNDROME TYPE 1 311300
    • OTOPALATODIGITAL SYNDROME TYPE 2 304120
    • TERMINAL OSSEOUS DYSPLASIA 300244
    Tags
    • mosaicism

    Green FLNA in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.32
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review 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
    • UKGTN
    Phenotypes
    • Orofacial Clefting with skeletal anomalies
    • Otopalatodigital syndrome, type I, 311300 (includes clefting)
    • Otopalatodigital syndrome, type II, 304120 (includes clefting)
    • Melnick-Needles syndrome, 309350 (includes clefting)
    • OTOPALATODIGITAL SYNDROME, TYPE I
    • OPD1, OTOPALATODIGITAL SYNDROME, TYPE II
    • OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1
    • FMD1

    Green FLNA in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.374
    Latest signed off version: v2.2 (13 Feb 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • North West GLH
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Heterotopia, periventricular OMIM:300049

    Green FLNA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Frontometaphyseal dysplasia, 305620Heterotopia, periventricular, ED variant, 300537FG syndrome 2, 300321Cardiac valvular dysplasia, X-linked, 314400Terminal osseous dysplasia, 300244Congenital short bowel syndrome, 300048
    • EPILEPTIC ENCEPHALOPATHY

    Green FLNA in Severe Paediatric Disorders


    Version 1.78

    review 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