SBF2

SET binding factor 2
OMIM: 607697, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber SBF2 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber GDL Glaucoma panel Phenotypes Charcot-Marie-Tooth disease, type 4B2 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 1.383	review	BIALLELIC, autosomal or pseudoautosomal	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 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563
Green SBF2 in Structural eye disease Version 1.42 Signed off v.1.3 on 4 Mar 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 4B2 604563 CMT with early onset glaucoma
Green SBF2 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	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 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563