LSS

lanosterol synthase
OMIM: 600909, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green LSS in Non-syndromic hypotrichosis Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotrichosis 14 OMIM:618275 hypotrichosis 14 MONDO:0032649
Amber LSS in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Alopecia-intellectual disability syndrome 4, OMIM:618840 alopecia-intellectual disability syndrome 4, MONDO:0030009 Tags Q3_25_promote_green
Amber LSS in Ectodermal dysplasia Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Alopecia-intellectual disability syndrome 4, OMIM:618840 alopecia-intellectual disability syndrome 4, MONDO:0030009 Hypotrichosis 14, OMIM:618275 hypotrichosis 14, MONDO:0032649 Tags Q3_25_promote_green
Green LSS in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cataract 44, 616509
Green LSS in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Alopecia-intellectual disability syndrome 4, OMIM:618840 Cataract 44, OMIM:616509
Amber LSS in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Literature Phenotypes Alopecia-intellectual disability syndrome 4, OMIM:618840 alopecia-intellectual disability syndrome 4, MONDO:0030009 Tags Q3_25_promote_green
Green LSS in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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