NOP56

NOP56 ribonucleoprotein
OMIM: 614154, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red NOP56 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) 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 1.344	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 Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	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 Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	Other	Sources Expert Review Red Expert list Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red NOP56 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Other	Sources Expert Review Red London North GLH Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags nucleotide-repeat-expansion currently-ngs-unreportable
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 1.84	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 Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) 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 1.344	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR
Green NOP56_GGCCTG STR in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Expert list Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR
Green NOP56_GGCCTG STR in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.74	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 1.506	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 1.506	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 Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	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
Green NOP56_GGCCTG STR in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review NHS GMS Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR