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  3. MAP3K7
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Paediatric or syndromic cardiomyopathy

Gene: MAP3K7

Green List (high evidence)
MAP3K7 (mitogen-activated protein kinase kinase kinase 7)
EnsemblGeneIds (GRCh38): ENSG00000135341
EnsemblGeneIds (GRCh37): ENSG00000135341
OMIM: 602614, Gene2Phenotype
MAP3K7 is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 11:50 a.m. | Last Modified: 24 Feb 2025, 11:50 a.m.
Panel Version: 6.7

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

Created: 24 Feb 2025, 11:50 a.m.
Last Modified: 24 Feb 2025, 11:50 a.m.
Panel version: 6.7

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

At least 15 MAP3K7 variants have been associated with Cardiospondylocarpofacial syndrome (OMIM:157800)(PMID: 35730652;34687574;29467388;27426734). The publications report that the MAP3K7 variants were de novo in 16/18 cases (one variant was inherited from the affected father and one was not maternal and the paternal sample was not available (PMID: 35730652).
Created: 9 Aug 2024, 4:10 p.m. | Last Modified: 9 Aug 2024, 4:10 p.m.
Panel Version: 5.5
Sources: Expert Review
Created: 9 Aug 2024, 3:22 p.m.

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

Phenotypes
Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137

Publications

Created: 9 Aug 2024, 3:22 p.m.

Panel version: 5.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Cardiospondylocarpofacial syndrome, OMIM:157800
OMIM
602614
Clinvar variants
Variants in MAP3K7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: MAP3K7. Tag Q3_24_NHS_review was removed from gene: MAP3K7.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to MAP3K7. Source Expert Review Green was added to MAP3K7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Aug 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: MAP3K7. Tag Q3_24_NHS_review tag was added to gene: MAP3K7.

9 Aug 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MAP3K7 were set to 35730652; 34687574

9 Aug 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MAP3K7 were changed from Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137 to Cardiospondylocarpofacial syndrome, OMIM:157800

9 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: map3k7 has been classified as Amber List (Moderate Evidence).

9 Aug 2024, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: MAP3K7 was added gene: MAP3K7 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP3K7 were set to 35730652; 34687574 Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137 Review for gene: MAP3K7 was set to AMBER