Genomics England

FLNA

filamin A

Panel	Mode of inheritance	Details
Filter panels14 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	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
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	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 5.3	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 4.3	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
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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
Green in Intestinal failure or congenital diarrhoea R-numbers: R331 Signed-off version 3.0	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
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 5.4	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
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	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
Green in Mosaic brain disorders - deep sequencing R-numbers: R429 Signed-off version 1.1	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
Green in Paediatric pseudo-obstruction syndrome R-numbers: R438 Signed-off version 1.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Congenital short bowel syndrome, OMIM:300048, Intestinal pseudoobstruction, neuronal, OMIM:300048
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	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 Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	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
Green in Thoracic aortic aneurysm or dissection (GMS) R-numbers: R125 Signed-off version 3.0	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