1. Panels
  2. Regression
  3. SCA36
Genes in panel
Prev Next
Regions in panel
Prev Next

Regression

STR: SCA36

Green List (high evidence)
Chromosome: 20
GRCh37 Position: 2633380-2633403
GRCh38 Position: 2652734-2652757
Repeated Sequence: GGCCTG
Normal Number of Repeats: < 14
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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_006392​.3:c.3+71GGCCTG[X]
Toxic RNA effect is suggested mechanism of disease
Normal: 3-14 repeats
Uncertain significance: 15-650 repeats
Pathogenic: ≥650 repeats
Sources: Expert list
Created: 31 Aug 2021, 2:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 36 MIM#614153

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 31 Aug 2021, 2:36 a.m.

Panel version: 0.363

Details

Name
SCA36
Chromosome
20
GRCh37 Coordinates
2633380-2633403
GRCh38 Coordinates
2652734-2652757
Repeated Sequence
GGCCTG
Normal Number of Repeats: <
14
Pathogenic Number of Repeats: = or >
650
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 36 MIM#614153
OMIM
614154
Clinvar variants
Variants in NOP56
Penetrance
None
Publications

History Filter Activity

31 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: sca36 has been classified as Green List (High Evidence).

31 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: sca36 has been classified as Green List (High Evidence).

31 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: SCA36 was added STR: SCA36 was added to Regression. Sources: Expert list Mode of inheritance for STR: SCA36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA36 were set to 21683323 Phenotypes for STR: SCA36 were set to Spinocerebellar ataxia 36 MIM#614153 Review for STR: SCA36 was set to GREEN STR: SCA36 was marked as clinically relevant