SBF2

Green SBF2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

Sources

• Expert Review Green
• NHS GMS
• GDL Glaucoma panel

Phenotypes

• Charcot-Marie-Tooth disease, type 4B2, OMIM:604563
• CMT with early onset glaucoma

Green SBF2 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478

Sources

• South West GLH
• NHS GMS
• London North GLH
• Expert Review Green
• Emory Genetics Laboratory
• UKGTN
• Radboud University Medical Center, Nijmegen
• Expert list
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Charcot Marie Tooth disease, type 4B2, 604563
• Charcot Marie Tooth disease, type 4B2, 604563

Red SBF2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Charcot-Marie-Tooth disease, type 4B2, 604563

Green SBF2 in Structural eye disease

Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• Charcot-Marie-Tooth disease, type 4B2 604563
• CMT with early onset glaucoma

Green SBF2 in Hereditary neuropathy or pain disorder

Version 4.11
Latest signed off version: v4.0 (1 May 2024)

Sources

• Radboud University Medical Center, Nijmegen
• South West GLH
• Expert Review Green
• UKGTN
• Emory Genetics Laboratory
• Expert list
• London North GLH
• Illumina TruGenome Clinical Sequencing Services
• NHS GMS
• South West GLH
• NHS GMS
• London North GLH

Phenotypes

• Charcot Marie Tooth disease, type 4B2, 604563

Green SBF2 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Charcot-Marie-Tooth disease, type 4B2, 604563