Genes in panel
Regions in panel
Prev Next

Intellectual disability

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by external exprt and reviewed by curation team. LNPK is associated with a phenotype in OMIM but not on Gene2Phenotype. It has been given an amber gene rating based on expert review. A watchlist tag has also been added.
Created: 18 Feb 2019, 11:06 a.m.

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, 7:51 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
  • Expert Review Amber
Phenotypes
  • Generalized hypotonia
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Hypoplasia of the corpus callosum
  • Abnormality of the cerebellum
  • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090
Tags
watchlist
OMIM
610236
Clinvar variants
Variants in LNPK
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

18 Feb 2019, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: LNPK.

18 Feb 2019, Gel status: 0

Set Phenotypes

Ivone Leong (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 Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Hypoplasia of the corpus callosum; Abnormality of the cerebellum; 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 Intellectual disability panel. Sources: Literature

14 Aug 2018, Gel status: 0

Created

Konstantinos Varvagiannis (Other)

LNPK was created by Konstantinos Varvagiannis