Ectodermal dysplasia

Gene: LSS

Amber List (moderate evidence)

LSS (lanosterol synthase)
EnsemblGeneIds (GRCh38): ENSG00000160285
EnsemblGeneIds (GRCh37): ENSG00000160285
OMIM: 600909, Gene2Phenotype
LSS is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting this gene from red to amber for now, but with a recommendation for consideration for a green rating following GMS review, if appropriate for the panel.
Created: 12 Jan 2021, 10:06 p.m. | Last Modified: 12 Jan 2021, 10:06 p.m.
Panel Version: 1.15
Associated with Hypotrichosis 14 618275 (AR) in OMIM.

PMID: 32101538 - Wada et al 2020 - report two siblings from a nonconsanguineous Japanese family with novel biallelic LSS mutations (compound het) who presented congenital hypotrichosis, midline anomalies, such as cleft palate and agenesis of the corpus callosum, and no cataracts. The motor and mental development of the patients were normal. They also created tissue specific knock-out mice as Lss constitutive knockout mice are embryonically lethal, and found epidermis-specific knockout of Lss caused hypotrichosis, lens-specific Lss knockout mice had cataracts.

PMID: 30723320 - Besnard et al 2019 - report 7 unrelated families (11 individuals) with variants in LSS who present with alopecia (11/11), intellectual disability (10 mod/severe, 1 mild) and epilepsy (7/11). Segregation data shown for 6 families.

PMID: 30401459 - Romano et al 2018 - report 3 unrelated (Arabic, Swiss, Afgan origin) families with potentially autosomal-recessive Hypotrichosis simplex in which they identify by WES 5 five different missense and nonsense mutations in LSS. Variants were shown to segregate with the disorder in 2 families (DNA not available for the third). In one family the siblings also presented with intellectual disability but the authors consider this coincidental. No other phenotypes such as cataracts were reported.

PMID: 29016354 - Chen and Lui 2017 - report a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and compound heterozygous variants in LSS.
Sources: Literature
Created: 12 Jan 2021, 10:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Hypotrichosis 14 OMIM:618275; hypotrichosis 14 MONDO:0032649



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Hypotrichosis 14 OMIM:618275
  • hypotrichosis 14 MONDO:0032649
Clinvar variants
Variants in LSS
Panels with this gene

History Filter Activity

12 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: lss has been classified as Amber List (Moderate Evidence).

12 Jan 2021, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: LSS was added gene: LSS was added to Ectodermal dysplasia. Sources: Literature Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSS were set to 32101538; 30401459; 30723320; 29016354 Phenotypes for gene: LSS were set to Hypotrichosis 14 OMIM:618275; hypotrichosis 14 MONDO:0032649 Review for gene: LSS was set to GREEN