Genes in panel

Hereditary neuropathy

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

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

More evidence needed. PMID: 24647030 - de novo mutation in the X-linked LAS1L gene (is absent from gnomAD). knockdown of las1l in zebrafish results in dysmorphic embryos with early lethality
Created: 29 Apr 2019, 12:30 p.m.

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

Publications

Alexander Rossor (UCL Institute of Neurology)

Red List (low evidence)

Single case but de novo mutation
Created: 9 Dec 2015, 8:50 a.m.

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

Mary Reilly (Institute of Neurology)

Red List (low evidence)

Single case but de novo mutation
Created: 8 Dec 2015, 3:07 p.m.

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
OMIM
300964
Clinvar variants
Variants in LAS1L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene LAS1L were changed from to 24647030

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LAS1L.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to LAS1L.

6 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

LAS1L was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

LAS1L was created by MReilly-925