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Intellectual disability

STR: DMPK_CTG

Green List (high evidence)

Chromosome: 19
GRCh37 Position: 46273463-46273522
GRCh38 Position: 45770205-45770264
Repeated Sequence: CTG
Normal Number of Repeats: < or = 38
Pathogenic Number of Repeats: = or > 50

DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 18 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: 4 Dec 2018, 1:01 p.m.

Details

Name
DMPK_CTG
Chromosome
19
GRCh37 Coordinates
46273463-46273522
GRCh38 Coordinates
45770205-45770264
Repeated Sequence
CTG
Normal Number of Repeats: < or =
38
Pathogenic Number of Repeats: = or >
50
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
STR
OMIM
605377
Clinvar variants
Variants in DMPK
Penetrance
None

History Filter Activity

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

4 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

4 Dec 2018, Gel status: 1

Changed Normal Number of Repeats

Arianna Tucci (Genomics England Curator)

Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: DMPK_CTG. Panel: Intellectual disability

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: DMPK_CTG was added to Intellectual disability panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: DMPK_CTG was created by Ellen McDonagh