LSS

lanosterol synthase
OMIM: 600909, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green LSS in Non-syndromic hypotrichosis Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotrichosis 14 OMIM:618275 hypotrichosis 14 MONDO:0032649
Amber LSS in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypotrichosis 14 OMIM:618275 hypotrichosis 14 MONDO:0032649
Green LSS in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cataract 44, 616509
Amber LSS in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Review Expert Review Amber Expert Review Literature Phenotypes Alopecia Abnormality of the skin Microcephaly Cataract 44, 616509, Hypotrichosis 14, 618275 Seizures Abnormality of the genital system Hypotonia Intellectual disability Global developmental delay
Green LSS in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Literature Phenotypes Alopecia Abnormality of the skin Cataract 44, Hypotrichosis 14, 616509, 618275 Microcephaly Seizures Abnormality of the genital system Hypotonia Intellectual disability Global developmental delay