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Inborn errors of metabolism

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 17 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Mitochondrial disorders v1.86
Sources: Expert list
Created: 21 Dec 2018, 10:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myotonic dystrophy 1 160900

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 Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
STR
OMIM
605377
Clinvar variants
Variants in DMPK
Penetrance
None

History Filter Activity

8 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Mitoc

21 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: DMPK_CTG was added STR: DMPK_CTG was added to Inborn errors of metabolism. Sources: Expert list STR tags were added to STR: DMPK_CTG. Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1 160900 Review for STR: DMPK_CTG was set to GREEN