Repeat Disorders

STR: DM2

Green List (high evidence)

Chromosome: 3
GRCh37 Position: 128891420-128891499
GRCh38 Position: 129172577-129172656
Repeated Sequence: CCTG
Normal Number of Repeats: < or = 26
Pathogenic Number of Repeats: = or > 75

CNBP (CCHC-type zinc finger nucleic acid binding protein)
EnsemblGeneIds (GRCh38): ENSG00000169714
EnsemblGeneIds (GRCh37): ENSG00000169714
OMIM: 116955, Gene2Phenotype
CNBP is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

HGVS nomenclature: NM_003418.4:c.-14-833_-14-830[X]
Toxic gain of function RNA expected mechanism of disease
Normal: ≤30 uninterrupted CCTG repeats, 11-26 CCTG repeats with any GCTC or TCTG interruptions
Unknown significance (normal vs. mutable): 27-29 CCTG repeats
Mutable normal (premutation) alleles. ~30-~54 CCTG repeats
Unknown significance (premutation vs pathogenic): ~55-74 CCTG repeats
Pathogenic: ~75-11,000 CCTG repeats
Sources: Expert list
Created: 26 Aug 2021, 9:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myotonic dystrophy 2 MIM#602668

Publications

Clinically Relevant

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

Details

Name
DM2
Chromosome
3
GRCh37 Coordinates
128891420-128891499
GRCh38 Coordinates
129172577-129172656
Repeated Sequence
CCTG
Normal Number of Repeats: < or =
26
Pathogenic Number of Repeats: = or >
75
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 2 MIM#602668
Tags
adult-onset
OMIM
116955
Clinvar variants
Variants in CNBP
Penetrance
None
Publications

History Filter Activity

1 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag adult-onset tag was added to STR: DM2.

26 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: dm2 has been classified as Green List (High Evidence).

26 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: dm2 has been classified as Green List (High Evidence).

26 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: DM2 was added STR: DM2 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: DM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: DM2 were set to 20301639; 11486088 Phenotypes for STR: DM2 were set to Myotonic dystrophy 2 MIM#602668 Review for STR: DM2 was set to GREEN STR: DM2 was marked as clinically relevant