Motor Neurone Disease
Gene: LAS1L

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. Single case report of congenital lethal motor neuron disease identified.
Created: 28 Sep 2020, 3:11 a.m. | Last Modified: 28 Sep 2020, 3:11 a.m.

Panel Version: 0.60

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

Phenotypes
congenital lethal motor neuron disease

Publications

24647030

Created: 28 Sep 2020, 3:11 a.m.
Last Modified: 28 Sep 2020, 3:11 a.m.
Panel version: 0.64

Details

Mode of Inheritance

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

Sources

Expert Review Green
Expert Review Red
Expert list
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

congenital lethal motor neuron disease

OMIM

300964

Clinvar variants

Variants in LAS1L

Penetrance

None

Publications

24647030

Panels with this gene