Genes in panel

Hereditary ataxia - adult onset

Gene: LNPK

Amber List (moderate evidence)

LNPK (lunapark, ER junction formation factor)
EnsemblGeneIds (GRCh38): ENSG00000144320
EnsemblGeneIds (GRCh37): ENSG00000144320
OMIM: 610236, Gene2Phenotype
LNPK is in 5 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.

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

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

History Filter Activity

27 Apr 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: LNPK was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum for gene: LNPK

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LNPK.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: LNPK was added gene: LNPK was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LNPK was set to