FLNA

PanelMode of inheritanceDetails
13 panels
R-numbers: R83
Signed-off version 4.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Frontometaphyseal dysplasia 1, OMIM:305620, Otopalatodigital syndrome, type I, OMIM:311300, Otopalatodigital syndrome, type II, OMIM:304120, Terminal osseous dysplasia, OMIM:300244
R-numbers: R90
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Heterotopia, periventricular, 1, OMIM:300049, Macrothrombocytopenia
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Frontometaphyseal dysplasia 1, OMIM:305620, Melnick-Needles syndrome, OMIM:309350, Otopalatodigital syndrome, type I, OMIM:311300, Otopalatodigital syndrome, type II, OMIM:304120
R-numbers: R100
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Frontometaphyseal dysplasia 1, OMIM:305620, Melnick-Needles syndrome, OMIM:309350, Otopalatodigital syndrome, type I, OMIM:311300, Otopalatodigital syndrome, type II, OMIM:304120
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
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, R412
Signed-off version 2.1
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 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Heterotopia, periventricular OMIM:300049
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Heterotopia, periventricular, 1, OMIM:300049, Otopalatodigital syndrome, type II, OMIM:304120, ?FG syndrome 2, OMIM:300321
R-numbers: R331
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Congenital short bowel syndrome, OMIM:300048, Intestinal pseudoobstruction, neuronal, OMIM:300048, ?FG syndrome 2, OMIM:300321
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Frontometaphyseal dysplasia 1, OMIM:305620, Melnick-Needles syndrome, OMIM:309350, Otopalatodigital syndrome, type I, OMIM:311300, Otopalatodigital syndrome, type II, OMIM:304120, Terminal osseous dysplasia, OMIM:300244
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Heterotopia, periventricular, 1, OMIM:300049
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Frontometaphyseal dysplasia 1, OMIM:305620, Melnick-Needles syndrome, OMIM:309350, Otopalatodigital syndrome, type I, OMIM:311300, Otopalatodigital syndrome, type II, OMIM:304120, Terminal osseous dysplasia, OMIM:300244
R-numbers: R125
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Cardiac valvular dysplasia, X-linked, OMIM:314400, Heterotopia, periventricular, 1, OMIM:300049