Glaucoma (developmental)

Gene: SBF2

Green List (high evidence)

Glaucoma associated with truncating/nonsense variants, and can precede neuropathy.

Created: 2 Aug 2020, 9:11 a.m. | Last Modified: 2 Aug 2020, 9:11 a.m.

Panel Version: 1.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4B2, MIM# 604563

Publications

• 12687498
• 15304601

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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 mutations

Created: 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

• 12687498, 15304601

Green List (high evidence)

Comment on list classification: Promoted from Amber to Green. This gene is also Green on the Structural eye disease panel (Version 1.56).

Created: 16 Apr 2021, 1:06 p.m. | Last Modified: 16 Apr 2021, 1:06 p.m.

Panel Version: 1.16

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 mutations

Created: 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

• 12687498
• 15304601

Comment on list classification: Feedback from Arianna Tucci: glaucoma can be part of the phenotype but it doesn’t seem developmental. Would keep it as amber.

Created: 26 Apr 2017, 9:01 a.m.

Comment on list classification: This is a green gene on our Charcot-Marie-Tooth disease gene panel (version 1.9) for Charcot-Marie-Tooth disease, type 4B2 which includes Glaucoma, open-angle, early-onset (occurs in patients with nonsense or truncating mutations in the SBF2 gene) and Glaucoma may precede development of neuropathy as part of the clinical synopsis. However, I am unsure of whether this should be green on our glaucoma panel.

Created: 12 Apr 2017, 4:25 p.m.

I don't know

Phenotypes
CMT with early onset glaucoma

Variants in this GENE are reported as part of current diagnostic practice