Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: MAPK8IP3

Amber List (moderate evidence)

MAPK8IP3 (mitogen-activated protein kinase 8 interacting protein 3)
EnsemblGeneIds (GRCh38): ENSG00000138834
EnsemblGeneIds (GRCh37): ENSG00000138834
OMIM: 605431, Gene2Phenotype
MAPK8IP3 is in 7 panels

4 reviews

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. Onset in childhood. Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 29 Nov 2021, 12:06 p.m. | Last Modified: 29 Nov 2021, 12:06 p.m.
Panel Version: 2.278

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

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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
Tags
Q4_21_rating
OMIM
605431
Clinvar variants
Variants in MAPK8IP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).

29 Nov 2021, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Wessex and West Midlands GLH,Expert Review Green,NHS GMS Q4_21_rating tags were added to gene: MAPK8IP3. Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPK8IP3 were set to 30612693; 30945334 Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443