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Mendeliome

Gene: MARK4

Red List (low evidence)

MARK4 (microtubule affinity regulating kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000007047
EnsemblGeneIds (GRCh37): ENSG00000007047
OMIM: 606495, Gene2Phenotype
MARK4 is in 2 panels

1 review

Rylee Peters (Victorian Clinical Genetics Services)

I don't know

Heterozygous missense variant, c.604T>C; p.Phe202Leu, identified in two siblings with childhood-onset neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and dysmorphic features. The variant is located in the catalytic domain of the kinase, and is inherited from unaffected mosaic mother.

Functional investigation revealed that the variant results in a gain-of-function in the ability of MARK4 to phosphorylate tau and leads to up-regulation of the mTORC1 pathway.
Sources: Literature
Created: 7 Dec 2023, 1:41 a.m. | Last Modified: 7 Dec 2023, 1:45 a.m.
Panel Version: 1.1401

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder (MONDO:0700092), MARK4-related

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • neurodevelopmental disorder (MONDO:0700092), MARK4-related
OMIM
606495
Clinvar variants
Variants in MARK4
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mark4 has been classified as Red List (Low Evidence).

7 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mark4 has been classified as Red List (Low Evidence).

7 Dec 2023, Gel status: 0

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mark4 has been removed from the panel.

7 Dec 2023, Gel status: 0

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

Rylee Peters (Victorian Clinical Genetics Services)

gene: MARK4 was added gene: MARK4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MARK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MARK4 were set to PMID: 38041405 Phenotypes for gene: MARK4 were set to neurodevelopmental disorder (MONDO:0700092), MARK4-related Mode of pathogenicity for gene: MARK4 was set to Other Review for gene: MARK4 was set to AMBER gene: MARK4 was marked as current diagnostic