This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: LAS1L
LAS1L (LAS1 like, ribosome biogenesis factor)
EnsemblGeneIds (GRCh38): ENSG00000001497
EnsemblGeneIds (GRCh37): ENSG00000001497
OMIM: 300964, Gene2Phenotype
LAS1L is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000001497
EnsemblGeneIds (GRCh37): ENSG00000001497
OMIM: 300964, Gene2Phenotype
LAS1L is in 4 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Candidate gene from Grozeva et al, 2015 but not listed as a gene with likely pathogenic LoF or missense variants. In OMIM this gene is associated with Wilson-Turner syndrome (MIM:309585). Evidence is from Hu et al 2016 (PMID: 25644381). Males in two families with ID (one family with mild to moderate ID the other family with unspecified severity) and different likely causative missense variants in the LAS1L gene. Hackmann et al 2016 (PMID: 26358559) report 1 case where patient with a tentative diagnosis of Lujan-Fryns syndrome has variant in LAS1L but this is predicted to be benign.Created: 1 Mar 2018, 5:41 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Wilson-Turner syndrome 309585
- OMIM
- 300964
- Clinvar variants
- Variants in LAS1L
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Mar 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for LAS1L were set to Wilson-Turner syndrome 309585
1 Mar 2018, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for LAS1L were set to 25644381; 26358559
1 Mar 2018, Gel status: 1
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for LAS1L was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
1 Mar 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LAS1L was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)LAS1L was created by Ellen McDonagh