Hereditary neuropathy
Gene: LAS1L
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.
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 lethalityCreated: 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
Single case but de novo mutationCreated: 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)
Single case but de novo mutationCreated: 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)
Publications for gene LAS1L were changed from to 24647030
Source NHS GMS was added to LAS1L.
Source South West GLH was added to LAS1L.
This gene has been classified as Red List (Low Evidence).
LAS1L was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
LAS1L was created by MReilly-925