Hereditary spastic paraplegia - childhood onset

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

2 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 8 subjects presented with spasticity, among other features. Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 29 Nov 2021, 11:56 a.m. | Last Modified: 29 Nov 2021, 11:56 a.m.
Panel Version: 2.116

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 30612693 - 13 unrelated children patients with de novo variants, supported by functional studies. Patients have developmental delay (13/13), spasticity (4/13), ataxia (2/13), unstable gait (1/13), microcephaly (3/13), generalized seizures (3/13). No signs of regression, but cerebellar atrophy (3/12), thin corpus callosum (4/10), perisylvian polymicrogyria (2/12), white matter loss (4/12) was noted

PMID: 30945334 - 5 child patients (4 families) with spastic diplegia (4/5), ID (5/5), epilepsy (2/5) and cerebellar atrophy (5/5), corpus callosum hypoplasia (5/5).

Overall 8/18 individuals with spasticity.
Sources: Expert list
Created: 19 Sep 2020, 7:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without variable brain abnormalities, MIM# 618443

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
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

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MAPK8IP3 were changed from Neurodevelopmental disorder with or without variable brain abnormalities, MIM# 618443 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443

29 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: MAPK8IP3.

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).

19 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list 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, MIM# 618443 Review for gene: MAPK8IP3 was set to GREEN gene: MAPK8IP3 was marked as current diagnostic