1. Panels
  2. RASopathies
  3. MAP4K4
STRs in panel
Prev Next

RASopathies

Gene: MAP4K4

Green List (high evidence)
MAP4K4 (mitogen-activated protein kinase kinase kinase kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000071054
EnsemblGeneIds (GRCh37): ENSG00000071054
OMIM: 604666, Gene2Phenotype
MAP4K4 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Sufficient evidence to rate as Green - at least 26 individuals from 21 families reported with Rasopathy-like phenotype (PMID: 37126546)
Created: 6 May 2025, 10:47 a.m. | Last Modified: 6 May 2025, 10:47 a.m.
Panel Version: 1.82
Created: 6 May 2025, 10:47 a.m.
Last Modified: 6 May 2025, 10:47 a.m.
Panel version: 1.82

Irina Ziravecka (BKUS)

Green List (high evidence)

PMID: 37126546 - "a cohort of 26 affected individuals from 21 unrelated families with neurodevelopmental differences, cardiac issues, and CFAs who share a phenotype overlap with RASopathies and harbor a series of rare variants in MAP4K4.
Functional studies in zebrafish showed that MAP4K4 variants caused hypomorphic, LOF, or DN effects."
Sources: Literature
Created: 11 Jul 2023, 9:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental differences; multiple congenital anomalies

Publications

Mode of pathogenicity
Other

Created: 11 Jul 2023, 9:37 a.m.

Panel version: 1.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • neurodevelopmental differences
  • multiple congenital anomalies
Tags
gene-checked
OMIM
604666
Clinvar variants
Variants in MAP4K4
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

6 May 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: MAP4K4.

6 May 2025, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MAP4K4 were set to PMID: 37126546

6 May 2025, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: map4k4 has been classified as Green List (High Evidence).

11 Jul 2023, Gel status: 0

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

Irina Ziravecka (BKUS)

gene: MAP4K4 was added gene: MAP4K4 was added to RASopathies. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to PMID: 37126546 Phenotypes for gene: MAP4K4 were set to neurodevelopmental differences; multiple congenital anomalies Mode of pathogenicity for gene: MAP4K4 was set to Other Review for gene: MAP4K4 was set to GREEN