FLNA

PanelMode of inheritanceDetails
10 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
R-numbers: R100
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
frontometaphyseal dysplasia, oto-palato-digital syndromes, melnick-needles syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Heterotopia, periventricular 300049
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Frontometaphyseal dysplasia 305620 XLR, Melnick-Needles syndrome, 309350, Osteodysplasty Melnick Needles 309350 XLD, Otopalatodigital syndrome, type II 304120 XLD, Terminal osseous dysplasia 300244
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Periventricular Heterotopia 300049, Melnick-Needles syndrome 309350, Otopalatodigital syndrome, type I 311300, Otopalatodigital syndrome, type II 304120
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
R-numbers: R125
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders, Cardiac valvular dysplasia, X-linked 314400