Structural eye disease

Gene: CENPF

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:32 a.m. | Last Modified: 8 Mar 2022, 10:32 a.m.

Panel Version: 1.113

Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). This gene should be promoted to Green status when the panel is reviewed.

Created: 20 Jan 2021, 10:34 a.m. | Last Modified: 20 Jan 2021, 10:38 a.m.

Panel Version: 1.33

Green List (high evidence)

Stromme: two girls with Stromme syndrome and unilateral microcornea, later demonstrated to have compound het truncating variants by Filges, who also described another family with ocular anomalies. Ozkinay: family with two siblings with microphthalmia and Stromme syndrome with homozygous frameshift variant parents het, Alghamdi: family with two siblings with stromme syndrome: one with unilateral microphthalmia and one with corneal opacities with homozygous missense parents het;Syndrome seems mainly cataract - but sometimes with microcornea plus optic nerve coloboma and macular coloboma. Ho et al. 2022 have pubblished a further case with microphthalmia and compound het truncating variants, one inherited from mother; father n/a

Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.

Panel Version: 1.101

Stromme: two girls with Stromme syndrome and unilateral microcornea, later demonstrated to have compound het truncating variants by Filges, who also described another family with ocular anomalies. Ozkinay: family with two siblings with microphthalmia and Stromme syndrome with homozygous frameshift variant, Alghamdi: family with two siblings with stromme syndrome: one with unilateral microphthalmia and one with corneal opacities with homozygous missense;Syndrome seems mainly cataract - but sometimes with microcornea plus optic nerve coloboma and macular coloboma

Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.

Panel Version: 1.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stromme syndrome, MIM:600236

Publications

• 31953238
• 28407396
• 26820108
• 35001526
• 8261651