NFASC

neurofascin
OMIM: 609145, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green NFASC in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698
Green NFASC in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698
Green NFASC in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269
Green NFASC in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269