Childhood onset dystonia, chorea or related movement disorder
Gene: DMPKComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 3:32 p.m. | Last Modified: 9 Nov 2021, 3:32 p.m.
Panel Version: 1.183
Comment on list classification: Demoted from Amber to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.Created: 9 Jul 2021, 12:21 p.m. | Last Modified: 9 Jul 2021, 12:22 p.m.
Panel Version: 1.136
Causes myotinic dystrophy only due to STR expansion, not SNVs.Created: 30 Jun 2021, 11:03 a.m. | Last Modified: 30 Jun 2021, 11:06 a.m.
Panel Version: 1.132
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Tag nucleotide-repeat-expansion tag was added to gene: DMPK. Tag currently-ngs-unreportable tag was added to gene: DMPK.
Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1, 16090 to Myotonic dystrophy 1, OMIM:160900
Gene: dmpk has been classified as Red List (Low Evidence).
Mode of inheritance for gene: DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were changed from to Myotonic dystrophy 1, 16090
gene: DMPK was added gene: DMPK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: DMPK was set to