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Fetal anomalies

Gene: MAPK8IP3

Green List (high evidence)
MAPK8IP3 (mitogen-activated protein kinase 8 interacting protein 3)
EnsemblGeneIds (GRCh38): ENSG00000138834
EnsemblGeneIds (GRCh37): ENSG00000138834
OMIM: 605431, Gene2Phenotype
MAPK8IP3 is in 8 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Lots of patients. Half with brain anomalies and 10% with VSD
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Lyn Chitty (Great Ormond Street NHS Foundation Trust)

I don't know

Dev delay from infancy. Prob no fetal phenotype. Amber to watch for prenatal manifestation
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

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

Phenotypes
cerebral atrophy; Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; corpus callosum anomalies; polymicrogyria

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • polymicrogyria
  • cerebral atrophy
  • corpus callosum anomalies
  • Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
OMIM
605431
Clinvar variants
Variants in MAPK8IP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 for gene: MAPK8IP3

9 Mar 2026, Gel status: 3

Added New Source, Set mode of inheritance, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to MAPK8IP3. Mode of inheritance for gene MAPK8IP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK8IP3 were set to 30945334; 30612693 Phenotypes for gene: MAPK8IP3 were set to cerebral atrophy; Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; corpus callosum anomalies; polymicrogyria