Paediatric motor neuronopathies
Gene: DMPKComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 3:30 p.m. | Last Modified: 9 Nov 2021, 3:30 p.m.
Panel Version: 1.70
this test is important for the differential diagnosis for a hypotonic infant with feeding difficulty and hence may be included
this is a trinucleotide repeat expansionCreated: 2 Mar 2017, 7:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 11:40 a.m.
Comment on list classification: trinucleotide repeat expansionCreated: 14 Nov 2016, 2:13 p.m.
Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Phenotypes for gene: DMPK were changed from spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14. to Myotonic dystrophy 1, OMIM:160900
Mode of inheritance for gene: DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Mode of pathogenicity for DMPK was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
DMPK was added to Paediatric motor neuronopathiespanel. Sources: Emory Genetics Laboratory