Structural eye disease

Gene: SBF2

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: 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