FLNA

filamin A
OMIM: 300017, Gene2Phenotype

32 panels

Panel Reviews Mode of inheritance Details
32 panels

Green FLNA in Periventricular Grey Matter Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.2

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • 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
    • Australian Genomics Health Alliance Brain Malformation Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Heterotopia, periventricular, 1 , MIM#300049

    Green FLNA in Skeletal Dysplasia_Fetal


    Level 2: Skeletal disorders
    Version 0.230

    review Unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

    Green FLNA in Aortopathy_Connective Tissue Disorders


    Level 2: Cardiovascular disorders
    Version 1.87

    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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Heterotopia, periventricular, 1 MIM# 300049
    • Cardiac valvular dysplasia, X-linked MIM# 314400.

    Green FLNA in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.417

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • FLNA-related disorders
    • Otopalatodigital syndrome, type I 311300
    • Otopalatodigital syndrome, type II 304120
    • Terminal osseous dysplasia 300244

    Green FLNA in Bleeding and Platelet Disorders


    Level 2: Haematological disorders
    Version 1.52

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Macrothrombocytopaenia

    Red FLNA in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    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 Red
    • Literature
    Phenotypes
    • Heterotopia, periventricular, 1, MIM#300049

    Green FLNA in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.430

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FLNA in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.68

    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
    • Literature
    Phenotypes
    • otopalatodigital spectrum

    Green FLNA in Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Interstitial lung disease

    Green FLNA in Mendeliome


    Version 1.2374

    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
    • Victorian Clinical Genetics Services
    Phenotypes
    • ?FG syndrome 2, XL
    • Cardiac valvular dysplasia, X-linked
    • Congenital short bowel syndrome
    • Frontometaphyseal dysplasia 1
    • Heterotopia, periventricular, 1
    • Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome
    • Otopalatodigital syndrome, type I
    • Otopalatodigital syndrome, type II
    • Terminal osseous dysplasia

    Green FLNA in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.47

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FLNA in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.87

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Interstitial lung disease

    Green FLNA in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.15

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 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
    • Expert list
    Phenotypes
    • Melnick-Needles syndrome, 309350

    Green FLNA in Short Long Bones with Advanced Carpal Bone Age


    Level 2: Skeletal disorders
    Version 0.1

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FLNA in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 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
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Heterotopia, periventricular, 1, MIM# 300049

    Green FLNA in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FLNA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    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
    • Genetic Health Queensland
    Phenotypes
    • Heterotopia, periventricular, 1, MIM# 300049

    Green FLNA in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    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
    • NHS GMS
    Phenotypes
    • Frontometaphyseal dysplasia 305620
    • Otopalatodigital syndrome, type II -304120
    • Osteodysplasty Melnick Needles 309350 XLD
    • Melnick Needles syndrome 309350
    • Otopalatodigital syndrome, type II 304120 XLD
    • Frontometaphyseal dysplasia 305620 XLR
    • Terminal osseous dysplasia 300244
    • Otopalatodigital syndrome, type I -311300

    Green FLNA in Gastrointestinal neuromuscular disease


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Intestinal pseudoobstruction, neuronal, MIM# 300048
    • Congenital short bowel syndrome, MIM# 300048

    Green FLNA in Pulmonary Arterial Hypertension


    Level 2: Cardiovascular disorders
    Version 1.39

    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
    • Expert Review
    Phenotypes
    • congenital emphysematous lung disease due to Filamin A loss-of-function variant, MONDO:0800135
    • Melnick-Needles syndrome, MIM# 309350

    Green FLNA in Multiple joint dislocations and laxity

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.9

    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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Otopalatodigital syndrome, type II -304120
    • Melnick Needles syndrome 309350
    • Osteodysplasty Melnick Needles 309350 XLD
    • Frontometaphyseal dysplasia 305620 XLR
    • Terminal osseous dysplasia 300244
    • Otopalatodigital syndrome, type I -311300
    • Otopalatodigital syndrome, type II 304120 XLD
    • Frontometaphyseal dysplasia 305620

    Green FLNA in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • FG syndrome 2, 300321 (3)

    Amber FLNA in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    review Other
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Heterotopia, periventricular, 1 , MIM#300049
    • Melnick-Needles syndrome 30, MIM#9350

    Green FLNA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Otopalatodigital spectrum disorder

    Green FLNA in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • UKGTN
    • Expert Review Green
    Phenotypes
    • OTOPALATODIGITAL SYNDROME, TYPE I
    • Otopalatodigital syndrome, type II, 304120 (includes clefting)
    • Orofacial Clefting with skeletal anomalies
    • OPD1, OTOPALATODIGITAL SYNDROME, TYPE II
    • OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1
    • FMD1
    • Melnick-Needles syndrome, 309350 (includes clefting)
    • Otopalatodigital syndrome, type I, 311300 (includes clefting)

    Green FLNA in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 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
    • Expert Review Green
    Phenotypes
    • Osteodysplasty Melnick Needles 309350 XLD
    • Otopalatodigital syndrome, type II 304120 XLD
    • Frontometaphyseal dysplasia 305620
    • Terminal osseous dysplasia 300244
    • Otopalatodigital syndrome, type I -311300

    Green FLNA in Fetal anomalies


    Version 1.314

    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
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Melnick-Needles syndrome, 309350
    • Otopalatodigital syndrome, type I 311300
    • Otopalatodigital syndrome, type II 304120
    • Terminal osseous dysplasia 300244
    • Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400

    Green FLNA in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • FG syndrome 2, MIM#300321
    • Frontometaphyseal dysplasia 1, MIM#305620
    • Heterotopia, periventricular, 1, MIM#300049
    • Intestinal pseudoobstruction, neuronal, MIM#300048
    • Melnick-Needles syndrome, MIM#309350
    • Otopalatodigital syndrome, type I, MIM#311300
    • Otopalatodigital syndrome, type II, MIM#304120
    • Terminal osseous dysplasia, MIM#300244

    Red FLNA in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • FLNA-related disorders
    • Frontometaphyseal dysplasia 305620
    • Otopalatodigital syndrome, type II -304120
    • Osteodysplasty Melnick Needles 309350
    • Melnick Needles syndrome 309350
    • Otopalatodigital syndrome, type II 304120
    • Frontometaphyseal dysplasia 305620
    • Terminal osseous dysplasia 300244
    • Otopalatodigital syndrome, type I -311300

    Green FLNA in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Macrothrombocytopaenia

    Green FLNA in Prepair 500+


    Level 2: Screening
    Version 1.5

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • FG syndrome 2, 300321 (3)

    Amber FLNA in Spontaneous coronary artery dissection


    Level 2: Cardiovascular disorders
    Version 0.56

    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
    • Spontaneous coronary artery dissection