Structural eye disease
Gene: SBF2
glaucoma gene, can't find any evidence that it is associated with structural eye disease. Azzedine: two large independent pedigrees with Charcot-Marie-Tooth disease and early onset glaucoma with homozygous nonsense mutations. Hirano: one pedigree with Charcot-Marie-Tooth disease and early onset glaucoma with homozygous nonsense mutationsCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma
Publications
Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.Created: 24 Apr 2019, 1 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). glaucoma gene, can't find any evidence that it is associated with structural eye disease. Azzedine: two large independent pedigrees with Charcot-Marie-Tooth disease and early onset glaucoma with homozygous nonsense mutations. Hirano: one pedigree with Charcot-Marie-Tooth disease and early onset glaucoma with homozygous nonsense mutationsCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma
Publications
Gene: sbf2 has been classified as Green List (High Evidence).
Source NHS GMS was added to SBF2. Added phenotypes Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma for gene: SBF2 Publications for gene SBF2 were changed from to 15304601; 12687498
gene: SBF2 was added gene: SBF2 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma