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  3. LSS
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Ectodermal Dysplasia

Gene: LSS

Green List (high evidence)
LSS (lanosterol synthase)
EnsemblGeneIds (GRCh38): ENSG00000160285
EnsemblGeneIds (GRCh37): ENSG00000160285
OMIM: 600909, Gene2Phenotype
LSS is in 6 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Seven families with biallelic variants with a neuroectordermal syndrome, including alopecia. Mouse model has hypotrichosis cataracts.
Sources: Literature
Created: 19 Apr 2020, 6:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alopecia-mental retardation syndrome 4 MIM#618840; Hypotrichosis 14 MIM#618275

Publications

Created: 19 Apr 2020, 6:59 a.m.

Panel version: 0.22

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
Sources: Literature
Created: 12 Dec 2019, 8:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; Intellectual disability

Publications

Created: 12 Dec 2019, 8:54 a.m.

Panel version: Imported from Mendeliome panel version 0.285

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Alopecia-mental retardation syndrome 4 MIM#618840
  • Hypotrichosis 14 MIM#618275
OMIM
600909
Clinvar variants
Variants in LSS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lss has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lss has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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 30723320; 32101538 Phenotypes for gene: LSS were set to Alopecia-mental retardation syndrome 4 MIM#618840; Hypotrichosis 14 MIM#618275 Review for gene: LSS was set to GREEN