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Ataxia - paediatric
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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

18 reported individuals of whom 2 had ataxia.
Sources: Literature
Created: 17 Jan 2020, 12:54 a.m. | Last Modified: 12 Sep 2020, 6:16 a.m.

Panel Version: 0.243

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431

Publications

Created: 17 Jan 2020, 12:54 a.m.
Last Modified: 12 Sep 2020, 6:16 a.m.
Panel version: 0.243

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Literature
Royal Melbourne Hospital

Phenotypes

Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431

OMIM

Clinvar variants

Variants in MAPK8IP3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431

12 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAPK8IP3 were set to 30612693

12 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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 OMIM# 605431

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAPK8IP3 were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with variable brain anomalies