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  2. Hereditary neuropathy or pain disorder
  3. LAS1L
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Hereditary neuropathy or pain disorder

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.
Created: 29 Apr 2019, 12:53 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.63

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

Created: 29 Apr 2019, 12:30 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.58

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)

Created: 9 Dec 2015, 8:50 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

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)

Created: 8 Dec 2015, 3:07 p.m.

Panel version: Imported from Hereditary neuropathy panel version 0

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
  • South West GLH
  • Expert Review Red
  • Expert Review
  • NHS GMS
  • NHS GMS
  • South West GLH
OMIM
300964
Clinvar variants
Variants in LAS1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

gene: LAS1L was added gene: LAS1L was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAS1L were set to 24647030