FLNA

Panel	Reviews	Mode of inheritance	Details
Filter panels 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

FLNA

32 panels

Green FLNA in Periventricular Grey Matter Heterotopia

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Phenotypes

Green FLNA in Skeletal Dysplasia_Fetal

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Green FLNA in Aortopathy_Connective Tissue Disorders

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Phenotypes

Green FLNA in Arthrogryposis

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Phenotypes

Green FLNA in Bleeding and Platelet Disorders

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Phenotypes

Red FLNA in Cerebral Palsy

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Phenotypes

Green FLNA in Congenital Heart Defect

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Green FLNA in Craniosynostosis

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Phenotypes

Green FLNA in Interstitial Lung Disease

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Phenotypes

Green FLNA in Mendeliome

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Phenotypes

Green FLNA in Pierre Robin Sequence

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Green FLNA in Pulmonary Fibrosis_Interstitial Lung Disease

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Phenotypes

Green FLNA in Radial Ray Abnormalities

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Phenotypes

Green FLNA in Short Long Bones with Advanced Carpal Bone Age

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Green FLNA in Genetic Epilepsy

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Phenotypes

Green FLNA in Callosome

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Green FLNA in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green FLNA in Skeletal dysplasia

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Phenotypes

Green FLNA in Gastrointestinal neuromuscular disease

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Phenotypes

Green FLNA in Pulmonary Arterial Hypertension

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Phenotypes

Green FLNA in Multiple joint dislocations and laxity

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Phenotypes

Green FLNA in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Amber FLNA in Stroke

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Phenotypes

Green FLNA in Additional findings_Paediatric

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Phenotypes

Green FLNA in Clefting disorders

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Phenotypes

Green FLNA in Hand and foot malformations

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Phenotypes

Green FLNA in Fetal anomalies

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Phenotypes

Green FLNA in Prepair 1000+

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