Callosome
Gene: LNPK
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
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: LiteratureCreated: 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
Gene: lnpk has been classified as Green List (High Evidence).
Publications for gene: LNPK were set to PMID: 35599435, 30032983
Gene: lnpk has been classified as Green List (High Evidence).
Gene: lnpk has been classified as Green List (High Evidence).
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