NOP56

NOP56 ribonucleoprotein
OMIM: 614154, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red NOP56 in Ataxia and cerebellar anomalies - narrow panel Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	Other - please specifiy in evaluation comments	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red NOP56 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	Other - please specifiy in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red NOP56 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	Other - please specifiy in evaluation comments	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red NOP56 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.535 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Other	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red NOP56 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	Other - please specifiy in evaluation comments	Sources Expert Review Red London North GLH NHS GMS Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red NOP56 in Childhood onset dystonia, chorea or related movement disorder Version 3.76 Latest signed off version: v3.0 (22 Mar 2023)	review	Other	Sources Expert Review Red London North GLH Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Green NOP56 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 36, 614153
Green NOP56_GGCCTG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR
Amber NOP56_GGCCTG STR in Ataxia and cerebellar anomalies - narrow panel Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert list Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR watchlist
Green NOP56_GGCCTG STR in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR
Amber NOP56_GGCCTG STR in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Expert list Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR watchlist
Green NOP56_GGCCTG STR in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.69	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR
Amber NOP56_GGCCTG STR in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Expert Review Amber Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR
No list NOP56_GGCCTGTT STR in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR curated_removed
Green NOP56_GGCCTG STR in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR