Microcephaly
Gene: DTYMKEnsemblGeneIds (GRCh38): ENSG00000168393
EnsemblGeneIds (GRCh37): ENSG00000168393
OMIM: 188345, Gene2Phenotype
DTYMK is in 5 panels
1 review
Daniel Flanagan (Victorian Clinical Genetics Services)
Three unrelated families with biallelic DTYMK variants. The probands had severe microcephaly, growth retardation and minimal neurodevelopment. Supporting zebrafish model.
Sources: Expert listCreated: 5 May 2022, 2:33 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
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dtymk has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dtymk has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Daniel Flanagan (Victorian Clinical Genetics Services)gene: DTYMK was added gene: DTYMK was added to Microcephaly. Sources: Expert list 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