Human Gene Module / Chromosome 2 / LNPK

LNPKlunapark, ER junction formation factor

SFARI Gene Score
S
Syndromic Syndromic
Autism Reports / Total Reports
0 / 1
Rare Variants / Common Variants
2 / 0
Aliases
LNPK, KIAA1715,  LNP,  LNP1,  Ul,  ulnaless
Associated Syndromes
-
Chromosome Band
2q31.1
Associated Disorders
ASD
Relevance to Autism

Three affected children from two consanguineous families carrying homozygous loss-of-function mutations in the LNPK gene presented with a neurodevelopmental syndrome characterized by developmental delay (including delayed social development), intellectual disability, hypotonia, epilepsy and corpus callosum hypoplasia; in addition, two of the three cases also presented with autistic features (Breuss et al., 2018).

Molecular Function

SFARI Genomic Platforms
Reports related to LNPK (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome Breuss MW , et al. (2018) No Autistic features
Rare Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.751C>T p.Gln251Ter stop_gained Familial Both parents Simplex 30032983 Breuss MW , et al. (2018)
c.727del p.Ser243LeufsTer68 frameshift_variant Familial Both parents Multiplex 30032983 Breuss MW , et al. (2018)
Common Variants  

No common variants reported.

SFARI Gene score
S

Syndromic

Three affected children from two consanguineous families carrying homozygous loss-of-function mutations in the LNPK gene presented with a neurodevelopmental syndrome characterized by developmental delay (including delayed social development), intellectual disability, hypotonia, epilepsy and corpus callosum hypoplasia; in addition, two of the three cases also presented with autistic features (Breuss et al., 2018).

Score Delta: Score remained at S

The syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."

10/1/2019
S
icon
S

Score remained at S

New Scoring Scheme
Description

Three affected children from two consanguineous families carrying homozygous loss-of-function mutations in the LNPK gene presented with a neurodevelopmental syndrome characterized by developmental delay (including delayed social development), intellectual disability, hypotonia, epilepsy and corpus callosum hypoplasia; in addition, two of the three cases also presented with autistic features (Breuss et al., 2018).

Reports Added
[New Scoring Scheme]
Submit New Gene

Report an Error