Paediatric disorders - additional genes
Gene: FOXL2
Helen Brittain (Genomics England Clinical Team) supports inclusion of BPES and blepharophimosis genes on this panel as these are features that would be considered under the dysmorphism indication.Created: 21 Jul 2023, 3:13 p.m. | Last Modified: 21 Jul 2023, 3:13 p.m.
Panel Version: 3.3
The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 10:54 a.m. | Last Modified: 31 Jan 2023, 10:54 a.m.
Panel Version: 2.7
Comment on list classification: Promoting from grey to red for just now. Sufficient evidence for a gene-disease association if the phenotype is appropriate for the panel. Waiting for feedback from the clinical team.Created: 25 May 2022, 9:52 a.m. | Last Modified: 25 May 2022, 9:52 a.m.
Panel Version: 1.97
Suitable number of cases with pathogenic variants associated with condition. Gene associated with 2 forms of blepharophimosis/ptosis/epicanthus inversus syndrome. Type 1, eyelid abnormalities are associated with ovarian failure. Type 2 has eyelid abnormalities. As other genes associated with blepharophimosis are not on this panel querying clinical team to see if gene phenotype if suitable for panel.
Following feedback from clinical team this will become Green.Created: 24 May 2022, 6:14 a.m. | Last Modified: 8 Jun 2022, 10:12 a.m.
Panel Version: 1.97
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Blepharophimosis, epicanthus inversus, and ptosis, type 1 OMIM:110100
Recent request from clinician to specifically interrogate this gene from WGS data because BPES was clinically suspected in a patient and they were surprised it was not included in the R27 'congenital malformation and dysmorphism syndromes' gene list (paediatric disorders panel).
Sources: Other, NHS GMSCreated: 11 Jan 2022, 3:48 p.m. | Last Modified: 11 Jan 2022, 3:58 p.m.
Panel Version: 1.94
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q2_22_rating was removed from gene: FOXL2. Tag Q2_22_NHS_review was removed from gene: FOXL2.
Source Expert Review Green was added to FOXL2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Tag Q2_22_rating tag was added to gene: FOXL2. Tag Q2_22_NHS_review tag was added to gene: FOXL2.
Tag Q2_22_phenotype was removed from gene: FOXL2. Tag Q2_22_expert_review was removed from gene: FOXL2. Tag Q2_22_NHS_review was removed from gene: FOXL2.
Gene: foxl2 has been classified as Red List (Low Evidence).
Tag Q2_22_phenotype tag was added to gene: FOXL2. Tag Q2_22_expert_review tag was added to gene: FOXL2. Tag Q2_22_NHS_review tag was added to gene: FOXL2.
gene: FOXL2 was added gene: FOXL2 was added to Paediatric disorders - additional genes. Sources: Other,NHS GMS Mode of inheritance for gene: FOXL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Penetrance for gene: FOXL2 were set to unknown Review for gene: FOXL2 was set to AMBER