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Intellectual disability

Gene: LAS1L

Red List (low evidence)

LAS1L (LAS1 like, ribosome biogenesis factor)
EnsemblGeneIds (GRCh38): ENSG00000001497
EnsemblGeneIds (GRCh37): ENSG00000001497
OMIM: 300964, Gene2Phenotype
LAS1L is in 4 panels

4 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported with ID.
Created: 8 Feb 2020, 10:22 a.m. | Last Modified: 8 Feb 2020, 10:22 a.m.
Panel Version: 3.0

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Wilson-Turner syndrome, MIM# 309585

Publications

Variants in this GENE are reported as part of current diagnostic practice

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.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert Review Red
Phenotypes
  • Wilson-Turner syndrome 309585
OMIM
300964
Clinvar variants
Variants in LAS1L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to LAS1L.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LAS1L was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene LAS1L was set to ['25644381', '26358559']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LAS1L was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LAS1L was added to Intellectual disabilitypanel. Sources: Expert Review Red