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Hereditary neuropathy

STR: NOP56_GGCCTGTT

No list

Chromosome: 1
GRCh38 Position: 2633380-2633403
Repeated Sequence: GGCCTGTT
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 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: this is a test -
Created: 20 Jun 2019, 4:38 p.m. | Last Modified: 20 Jun 2019, 4:38 p.m.
Panel Version: 1.329

BRIDGE consortium (NIHRBR-RD)

I don't know

test
Sources: Expert list
Created: 11 Jun 2019, 5:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Name
NOP56_GGCCTGTT
Chromosome
1
GRCh38 Coordinates
2633380-2633403
Repeated Sequence
GGCCTGTT
Normal Number of Repeats: < or =
15
Pathogenic Number of Repeats: = or >
650
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
OMIM
614154
Clinvar variants
Variants in NOP56
Penetrance
None

History Filter Activity

20 Jun 2019, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: nop56_ggcctgtt has been removed from the panel.

20 Jun 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: nop56_ggcctgtt has been classified as Red List (Low Evidence).

20 Jun 2019, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: nop56_ggcctgtt has been removed from the panel.

11 Jun 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance

BRIDGE consortium (NIHRBR-RD)

STR: NOP56_GGCCTGTT was added STR: NOP56_GGCCTGTT was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for STR: NOP56_GGCCTGTT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: NOP56_GGCCTGTT was set to AMBER