Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Hereditary ataxia with onset in adulthood
Gene: MAPK8IP3

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

5 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.

Panel Version: 2.144

Created: 9 Mar 2022, 5:26 p.m.
Last Modified: 9 Mar 2022, 5:26 p.m.
Panel version: 2.144

Arina Puzriakova (Genomics England Curator)

Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334) of which 3 subjects displayed cerebellar atrophy on brain MRI and 2 had ataxia. However, this is a childhood onset condition and literature search did not reveal any evidence of adult onset ataxia associated with this gene. Therefore, MAPK8IP3 should be downgraded from Green here and added to the childhood cerebellar anomalies panel.
Created: 29 Nov 2021, 12:03 p.m. | Last Modified: 29 Nov 2021, 12:03 p.m.

Panel Version: 2.130

Created: 29 Nov 2021, 12:03 p.m.
Last Modified: 29 Nov 2021, 12:03 p.m.
Panel version: 2.130

Eleanor Williams (Genomics England Curator)

Phenotype recently added to OMIM so updated.
Created: 27 Jun 2019, 3:12 p.m. | Last Modified: 27 Jun 2019, 3:12 p.m.

Panel Version: 1.174

Created: 27 Jun 2019, 3:12 p.m.
Last Modified: 27 Jun 2019, 3:12 p.m.
Panel version: 1.174

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple families/variants reported (de novo). Cerebellar atrophy/hypoplasia and/or ataxia reported in a number of cases
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ID with variable brain anomalies, not included in

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
NHS GMS
Wessex and West Midlands GLH

Phenotypes

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

9 Mar 2022, Gel status: 1

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_21_rating was removed from gene: MAPK8IP3.

9 Mar 2022, Gel status: 1

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to MAPK8IP3. Rating Changed from Green List (high evidence) to Red List (low evidence)

29 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mapk8ip3 has been classified as Green List (High Evidence).

29 Nov 2021, Gel status: 3

Set publications, Added Tag

Arina Puzriakova (Genomics England Curator)

Publications for gene: MAPK8IP3 were updated from to 30612693; 30945334 Tag Q4_21_rating tag was added to MAPK8IP3.

29 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities, 618443 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443

27 Jun 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies to Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities, 618443

27 Apr 2019, Gel status: 3