| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Blepharophimosis v1.3 | FOXL2_BPES_GCN | Bryony Thompson Marked STR: FOXL2_BPES_GCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v1.3 | FOXL2_BPES_GCN | Bryony Thompson Str: foxl2_bpes_gcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v1.3 | FOXL2_BPES_GCN | Bryony Thompson Classified STR: FOXL2_BPES_GCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v1.3 | FOXL2_BPES_GCN | Bryony Thompson Str: foxl2_bpes_gcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v1.2 | FOXL2_BPES_GCN |
Bryony Thompson STR: FOXL2_BPES_GCN was added STR: FOXL2_BPES_GCN was added to Blepharophimosis. Sources: Literature Mode of inheritance for STR: FOXL2_BPES_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FOXL2_BPES_GCN were set to 11468277; 33811808 Phenotypes for STR: FOXL2_BPES_GCN were set to Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100; Premature ovarian failure 3 MIM#608996 Review for STR: FOXL2_BPES_GCN was set to GREEN STR: FOXL2_BPES_GCN was marked as clinically relevant STR: FOXL2_BPES_GCN was marked as current diagnostic Added comment: NM_023067.2:c.661_702[X] Mechanism of disease is polyAlanine tract leading to a loss of function of the protein Normal repeat number: 14 Pathogenic repeat number: 19-24 Sources: Literature |
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| Blepharophimosis v0.18 | FOXL2 | Zornitza Stark Marked gene: FOXL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v0.18 | FOXL2 | Zornitza Stark Gene: foxl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v0.18 | FOXL2 | Zornitza Stark Phenotypes for gene: FOXL2 were changed from to Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v0.17 | FOXL2 | Zornitza Stark Publications for gene: FOXL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v0.16 | FOXL2 | Zornitza Stark Mode of inheritance for gene: FOXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v0.15 | FOXL2 |
Ain Roesley changed review comment from: PMID: 31077882; 19x probands reported, AD. PMID: 18642388; BPES type I : Mutations predicted to result in proteins with truncation before the poly-Ala tract BPES type II: poly-Ala expansions (WT poly-Ala is between aa 221-234) Exceptions: Truncated proteins with complete forkhead and poly-Ala domains, can be either Type I and II NOTE: only 1 family reported for AR (PMID: 17089161); to: PMID: 31077882; >100 probands reported, AD. PMID: 18642388; BPES type I : Mutations predicted to result in proteins with truncation before the poly-Ala tract BPES type II: poly-Ala expansions (WT poly-Ala is between aa 221-234) Exceptions: Truncated proteins with complete forkhead and poly-Ala domains, can be either Type I and II NOTE: only 1 family reported for AR (PMID: 17089161) |
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| Blepharophimosis v0.15 | FOXL2 | Ain Roesley reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31077882, 18642388, 17089161; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v0.0 | FOXL2 |
Zornitza Stark gene: FOXL2 was added gene: FOXL2 was added to Blepharophimosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXL2 was set to Unknown |
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