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Hereditary neuropathy NOT PMP22 copy number

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
  • 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