Hereditary ataxia with onset in adulthood
Gene: LNPK

LNPK (lunapark, ER junction formation factor)
EnsemblGeneIds (GRCh38): ENSG00000144320
EnsemblGeneIds (GRCh37): ENSG00000144320
OMIM: 610236, Gene2Phenotype
LNPK is in 6 panels

2 reviews

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)

I don't know

Homozygous loss of function variants identified in two families with similar clinical features. Evidence of perturbed cellular machinery in fibroblasts BUT I don't think sufficient evidence linking gene with brain phenotype for Green list
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum

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

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS
Wessex and West Midlands GLH

Phenotypes

Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum

OMIM

610236

Clinvar variants

Variants in LNPK

Penetrance

None

Panels with this gene