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DDG2P

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MAP4K4-related neurodevelopmental disorder with or without congenital anomalies are moderate, monoallelic_autosomal and loss of function (PMIDs: 28518170, 36469137, 37126546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03550. The DDG2P confidence category, allelic requirement and molecular mechanism for MAP4K4-related neurodevelopmental disorder with or without congenital anomalies are moderate, monoallelic_autosomal and dominant negative (PMID:37126546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03716.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease MAP4K4-related neurodevelopmental disorder with/without congenital anomalies is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 37126546;28518170;36469137).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MAP4K4-related neurodevelopmental disorder with/without congenital anomalies; MONDO:0100038; MAP4K4-related neurodevelopmental disorder with or without congenital anomalies

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

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, 9:35 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, 9:35 a.m.

Panel version: 3.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAP4K4-related neurodevelopmental disorder with/without congenital anomalies
  • multiple congenital anomalies
  • neurodevelopmental differences
Tags
de novo gene-checked
OMIM
604666
Clinvar variants
Variants in MAP4K4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: MAP4K4 was changed from Other to None

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: MAP4K4.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

2 Oct 2024, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MAP4K4 were set to 36469137; 28518170; PMID: 37126546; 37126546

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to MAP4K4. Source DD-Gene2Phenotype was added to MAP4K4. Mode of inheritance for gene MAP4K4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes MAP4K4-related neurodevelopmental disorder with/without congenital anomalies for gene: MAP4K4 Publications for gene: MAP4K4 were updated from PMID: 37126546 to 36469137; 28518170; PMID: 37126546; 37126546 Rating Changed from No List (delete) to 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 DDG2P. 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