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Genetic epilepsy syndromes

Gene: LNPK

Amber List (moderate evidence)

LNPK (lunapark, ER junction formation factor)
EnsemblGeneIds (GRCh38): ENSG00000144320
EnsemblGeneIds (GRCh37): ENSG00000144320
OMIM: 610236, Gene2Phenotype
LNPK is in 4 panels

5 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

There are very few variants reported to be disease causing in LNPK, and all have come from the same source publication, PMID 30032983. The associated phenotype is severe and includes seizures/epilepsy.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 homozygous variants identified in 2 unrelated cases.
Created: 26 Sep 2018, 9:21 a.m.

Zornitza Stark (Australian Genomics)

I don't know

3 individuals from two families; seizures are part of the phenotype.
Created: 16 Aug 2018, 11:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Konstantinos Varvagiannis (Other)

I don't know

PMID 30032983 reports on 3 individuals (from 2 different consanguineous families) homozygous for loss-of-function variants in LNPK. The phenotype consisted of hypotonia, severe developmental delay, intellectual disability and seizures. MRI images demonstrated hypoplasia of the corpus callosum in all subjects and mild cerebellar hypoplasia and atrophy (in two of them). Functional studies were suggestive of absence of the full-length protein, more frequent aberrant endoplasmatic reticulum (ER) structures compared to controls and higher mass density within the ER.

This is the first report of the disorder.
Created: 14 Aug 2018, 7:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Hypoplasia of the corpus callosum; Abnormality of the cerebellum

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090
OMIM
610236
Clinvar variants
Variants in LNPK
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to LNPK.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to LNPK.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Konstantinos Varvagiannis: PMID 30032983 reports on 3 ind

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

26 Sep 2018, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LNPK were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Hypoplasia of the corpus callosum; Abnormality of the cerebellum to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090

14 Aug 2018, Gel status: 0

Added New Source

Konstantinos Varvagiannis (Other)

LNPK was added to Genetic Epilepsy Syndromes panel. Sources: Literature

14 Aug 2018, Gel status: 0

Created

Konstantinos Varvagiannis (Other)

LNPK was created by Konstantinos Varvagiannis