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  3. LAS1L
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Hereditary Neuropathy_CMT - isolated

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

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

3 unrelated individuals reported
Created: 24 Mar 2022, 12:59 a.m. | Last Modified: 24 Mar 2022, 1:05 a.m.
Panel Version: 0.11865

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

Created: 24 Mar 2022, 12:59 a.m.
Last Modified: 24 Mar 2022, 1:05 a.m.
Panel version: Imported from Mendeliome panel version 0.11865

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variants in this gene are generally associated with XL intellectual disability (Wilson-Turner syndrome, MIM# 309585). Single case report of congenital lethal motor neuron disease (SMARD) identified with supportive zebrafish model. Unclear whether this is a distinct phenotype/mechanism at present, await further reports.
Sources: Expert Review
Created: 28 Sep 2020, 3:18 a.m.

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

Phenotypes
congenital lethal motor neuron disease

Publications

Created: 28 Sep 2020, 3:18 a.m.

Panel version: 0.51

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert Review
Phenotypes
  • congenital lethal motor neuron disease
OMIM
300964
Clinvar variants
Variants in LAS1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: las1l has been classified as Red List (Low Evidence).

28 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAS1L was added gene: LAS1L was added to Hereditary Neuropathy_CMT - isolated. Sources: Expert Review Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: LAS1L were set to 24647030 Phenotypes for gene: LAS1L were set to congenital lethal motor neuron disease Review for gene: LAS1L was set to RED