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Regression

Gene: DTYMK

Green List (high evidence)

DTYMK (deoxythymidylate kinase)
EnsemblGeneIds (GRCh38): ENSG00000168393
EnsemblGeneIds (GRCh37): ENSG00000168393
OMIM: 188345, Gene2Phenotype
DTYMK is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive neurodegenerative disorder, 3 families reported.
Sources: Expert Review
Created: 5 May 2022, 9:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)
OMIM
188345
Clinvar variants
Variants in DTYMK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dtymk has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dtymk has been classified as Green List (High Evidence).

5 May 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DTYMK was added gene: DTYMK was added to Regression. Sources: Expert Review Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DTYMK were set to 34918187; 31271740 Phenotypes for gene: DTYMK were set to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Review for gene: DTYMK was set to GREEN