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Callosome

Gene: LNPK

Green List (high evidence)

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Additional patients identified demonstrating 'abnormal signal of the forceps minor = ear of the lynx sign' (this is also seen in a handful of other genetic brain anomalies in genes important for endoplasmic reticulum functioning.
Created: 7 Sep 2023, 2:19 a.m. | Last Modified: 7 Sep 2023, 2:19 a.m.
Panel Version: 0.504

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

  • https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

3 unrelated consanguineous families with 4 affected individuals reported. WES revealed 3 novel homozygous frameshift variants in exon 10 of the LNPK gene (detected as a heterozygote in healthy parents). Some functional evidence with mRNA expression decreased in the fibroblast tissues of the affected individuals with homozygous variants and healthy heterozygous parents, with a greater rate in individuals with homozygous variants. There was no full-length protein in the affected individuals with homozygous variants detected using immunohistochemical studies. Common clinical manifestations in all cases included developmental delay, movement disorders, epilepsy, corpus callosum anomalies, and regression phenotype.
Sources: Literature
Created: 29 Aug 2022, 10:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
OMIM
610236
Clinvar variants
Variants in LNPK
Penetrance
None
Publications
  • PMID: 35599435, 30032983
  • https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true
Panels with this gene

History Filter Activity

7 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lnpk has been classified as Green List (High Evidence).

7 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LNPK were set to PMID: 35599435, 30032983

29 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: lnpk has been classified as Green List (High Evidence).

29 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: lnpk has been classified as Green List (High Evidence).

29 Aug 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: LNPK was added gene: LNPK was added to Callosome. Sources: Literature Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LNPK were set to PMID: 35599435, 30032983 Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Review for gene: LNPK was set to GREEN