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Newborns main panel

Gene: MAP3K14

Amber List (moderate evidence)
MAP3K14 (mitogen-activated protein kinase kinase kinase 14)
EnsemblGeneIds (GRCh38): ENSG00000006062
EnsemblGeneIds (GRCh37): ENSG00000006062
OMIM: 604655, Gene2Phenotype
MAP3K14 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 30445060 - 1 individual and their three cousins (multiply consanguineous family) PMID: 29230214 1 individual. PMID: 25406581 2 cousins.
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • MAP3K14 associated immunodeficiency
OMIM
604655
Clinvar variants
Variants in MAP3K14
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MAP3K14. Added phenotypes MAP3K14 associated immunodeficiency for gene: MAP3K14 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MAP3K14. Added phenotypes MAP3K14 associated immunodeficiency for gene: MAP3K14 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MAP3K14. Added phenotypes MAP3K14 associated immunodeficiency for gene: MAP3K14 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MAP3K14. Added phenotypes MAP3K14 associated immunodeficiency for gene: MAP3K14 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MAP3K14 was added gene: MAP3K14 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: MAP3K14 was set to BIALLELIC, autosomal or pseudoautosomal