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  2. Test panel testing 2020-07-27
  3. NOP56_GGCCTG

Test panel testing 2020-07-27

STR: NOP56_GGCCTG

Amber List (moderate evidence)
Chromosome: 22
GRCh37 Position: 2633380-2633403
GRCh38 Position: 2652734-2652757
Repeated Sequence: GGCCTG
Normal Number of Repeats: < 15
Pathogenic Number of Repeats: = or > 650

NOP56 (NOP56 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000101361
EnsemblGeneIds (GRCh37): ENSG00000101361
OMIM: 614154, Gene2Phenotype
NOP56 is in 0 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

a further review
Created: 27 Jul 2020, 12:18 p.m. | Last Modified: 27 Jul 2020, 12:18 p.m.
Panel Version: 1.8
review, reviewed again
Created: 27 Jul 2020, 12:13 p.m. | Last Modified: 27 Jul 2020, 12:14 p.m.
Panel Version: 1.8
Sources: Expert list
Created: 27 Jul 2020, 12:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 36 614153

Created: 27 Jul 2020, 12:02 p.m.
Last Modified: 27 Jul 2020, 12:14 p.m.
Panel version: 1.8

Details

Name
NOP56_GGCCTG
Chromosome
22
GRCh37 Coordinates
2633380-2633403
GRCh38 Coordinates
2652734-2652757
Repeated Sequence
GGCCTG
Normal Number of Repeats: <
15
Pathogenic Number of Repeats: = or >
650
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 36 614153
Tags
STR
OMIM
614154
Clinvar variants
Variants in NOP56
Penetrance
None

History Filter Activity

27 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

27 Jul 2020, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag STR tag was added to STR: NOP56_GGCCTG.

27 Jul 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Test panel testing 2020-07-27. Sources: Expert list Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36 614153 Review for STR: NOP56_GGCCTG was set to GREEN