Amyotrophic lateral sclerosis/motor neuron disease

STR: NOP56_GGCCTG

Green List (high 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

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Created: 5 Dec 2018, 1:41 p.m.

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
Phenotypes
  • Spinocerebellar ataxia 36 614153
Tags
STR
OMIM
614154
Clinvar variants
Variants in NOP56
Penetrance
None

History Filter Activity

7 Dec 2018, Gel status: 4

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for STR: NOP56_GGCCTG were changed from to Spinocerebellar ataxia 36 614153

5 Dec 2018, Gel status: 3

Changed Repeated Sequence, Status Update

Arianna Tucci (Genomics England Curator)

Repeated Sequence for NOP56_GGCCTG was changed from CAG to GGCCTG. Rating Changed from Green List (high evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: NOP56_GGCCTG.

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: nop56_ggcctg has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: nop56_ggcctg has been classified as Red List (Low Evidence).

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arianna Tucci (Genomics England Curator)

STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Expert Review Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted