Structural eye disease
Gene: CENPFThe 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
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/aCreated: 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 colobomaCreated: 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
Tag for-review was removed from gene: CENPF. Tag Q1_22_NHS_review was removed from gene: CENPF.
Source Expert Review Green was added to CENPF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: CENPF.
Gene: cenpf has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: CENPF.
gene: CENPF was added gene: CENPF was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 28407396; 8261651; 31953238; 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome, OMIM:243605, MONDO:0009477