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| Paediatric disorders - additional genes v3.3 | FOXL2 | Arina Puzriakova commented on 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v2.7 | FOXL2 |
Arina Puzriakova Tag Q2_22_rating was removed from gene: FOXL2. Tag Q2_22_NHS_review was removed from gene: FOXL2. |
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| Paediatric disorders - additional genes v2.7 | FOXL2 | Arina Puzriakova reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v2.6 | FOXL2 |
Arina Puzriakova Source Expert Review Green was added to FOXL2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v1.97 | FOXL2 |
Catherine Snow changed review comment from: 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.; to: 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. |
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| Paediatric disorders - additional genes v1.97 | FOXL2 |
Catherine Snow Tag Q2_22_rating tag was added to gene: FOXL2. Tag Q2_22_NHS_review tag was added to gene: FOXL2. |
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| Paediatric disorders - additional genes v1.97 | FOXL2 |
Eleanor Williams 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. |
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| Paediatric disorders - additional genes v1.97 | FOXL2 | Eleanor Williams Classified gene: FOXL2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.97 | FOXL2 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.97 | FOXL2 | Eleanor Williams Gene: foxl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.96 | FOXL2 |
Catherine Snow 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. |
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| Paediatric disorders - additional genes v1.96 | FOXL2 | Catherine Snow changed review comment from: 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 tam to see if gene phenotype if suitable for panel; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.96 | FOXL2 | Catherine Snow reviewed gene: FOXL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, type 1 OMIM:110100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.94 | FOXL2 |
Ronnie Wright changed review comment from: 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 GMS; to: 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 GMS |
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| Paediatric disorders - additional genes v1.94 | FOXL2 |
Ronnie Wright changed review comment from: Recent request from clinician to specifically interrogate this gene from WGS data because it was clinically suspected in a patient and they were surprised it was not included in R27 congenital malformation and dysmorphism syndromes gene list (paediatric disorders panel). Sources: Other, NHS GMS; to: 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 GMS |
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| Paediatric disorders - additional genes v1.94 | FOXL2 |
Ronnie Wright 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 Added comment: Recent request from clinician to specifically interrogate this gene from WGS data because it was clinically suspected in a patient and they were surprised it was not included in R27 congenital malformation and dysmorphism syndromes gene list (paediatric disorders panel). Sources: Other, NHS GMS |
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