Autism
Gene: LARP1
LARP1 (La ribonucleoprotein domain family member 1)
EnsemblGeneIds (GRCh38): ENSG00000155506
EnsemblGeneIds (GRCh37): ENSG00000155506
OMIM: 612059, Gene2Phenotype
LARP1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000155506
EnsemblGeneIds (GRCh37): ENSG00000155506
OMIM: 612059, Gene2Phenotype
LARP1 is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Seven unrelated probands (6 males and 1 female) with ASD or another variable NDD phenotype (ID, hypotonia, motor delay and/or ASD). Variants were showed to be de novo null variants or missense variants that resulted in haploinsufficiency.
Ex vivo (knockout CRISPR-Cas9) functional assay using lymphoblasts that was collected and immortilised from one proband was conducted to assess the functional impact of the LARP1 variant. The results showed a reduction in protein compared to WT causing reduced rates of aerobic respiration and glycolysis.
Sources: OtherCreated: 5 Sep 2024, 1:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder; MONDO:0700092
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder
- MONDO:0700092
- OMIM
- 612059
- Clinvar variants
- Variants in LARP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
5 Sep 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: larp1 has been classified as Green List (High Evidence).
5 Sep 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: larp1 has been classified as Green List (High Evidence).
5 Sep 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: LARP1 was added gene: LARP1 was added to Autism. Sources: Other Mode of inheritance for gene: LARP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LARP1 were set to 39182167 Phenotypes for gene: LARP1 were set to Neurodevelopmental disorder; MONDO:0700092 Review for gene: LARP1 was set to GREEN