Genes in panel
Prev Next

Hereditary neuropathy

STR: NOP56_GGCCTG

Amber List (moderate evidence)

Chromosome: 20
GRCh37 Position: 2633380-2633403
GRCh38 Position: 2652734-2652757
Repeated Sequence: GGCCTG
Normal Number of Repeats: < or = 15
Pathogenic Number of Repeats: = or > 650

NOP56 (NOP56 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000101361
EnsemblGeneIds (GRCh37): ENSG00000101361
OMIM: 614154, Gene2Phenotype
NOP56 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green
Sources: Expert list
Created: 11 Jun 2019, 5:25 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 36, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy

Details

Name
NOP56_GGCCTG
Chromosome
20
GRCh37 Coordinates
2633380-2633403
GRCh38 Coordinates
2652734-2652757
Repeated Sequence
GGCCTG
Normal Number of Repeats: < or =
15
Pathogenic Number of Repeats: = or >
650
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 36, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy
Tags
STR
OMIM
614154
Clinvar variants
Variants in NOP56
Penetrance
None

History Filter Activity

12 Jun 2019, Gel status: 2

Removed Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert list was removed from STR: NOP56_GGCCTG. Source Expert Review was added to STR: NOP56_GGCCTG.

11 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: nop56_ggcctg has been classified as Amber List (Moderate Evidence).

11 Jun 2019, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Hereditary neuropathy. Sources: Expert list STR tags were added to STR: NOP56_GGCCTG. Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy Review for STR: NOP56_GGCCTG was set to GREEN