Ataxia and cerebellar anomalies - narrow panel
Gene: LNPK

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

PMID:30032983 reported three individuals from two different consanguineous families with homozygous LNPK variants. The only individual from the second family with p.Arg251Ter had ataxia and cerebellar atrophy, while one of two individuals from family 1 (with p.Pro243LeufsTer2 variant) had mild vermian hypoplasia and wide-based gait.

PMID:35599435 reported a girl born to consanguineous healthy parent of Turkish descent with a novel LNPK variant (c.770delA/ p.D257fs*31). She presented with ataxia, psychomotor delay, cerebellar dysfunction and myoclonic seizures.
Sources: Literature
Created: 23 Jul 2024, 5:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090

Publications

Created: 23 Jul 2024, 5:05 p.m.

Panel version: 5.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090

OMIM

610236

Clinvar variants

Variants in LNPK

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

23 Jul 2024, Gel status: 1

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