LSS

Green LSS in Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.11

Sources

• Expert Review Green
• Literature

Phenotypes

• Hypotrichosis 14 OMIM:618275
• hypotrichosis 14 MONDO:0032649

Amber LSS in Ectodermal dysplasia

Version 1.41
Latest signed off version: v1.10 (15 Oct 2020)

Sources

• Expert Review Amber
• Literature

Phenotypes

• Hypotrichosis 14 OMIM:618275
• hypotrichosis 14 MONDO:0032649

Green LSS in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76 (5 Aug 2021)

Sources

• Expert list
• Expert Review Green

Phenotypes

• Cataract 44, 616509

Amber LSS in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2 (13 Feb 2020)

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

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

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