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| Mendeliome v0.4667 | FOXL2 | Zornitza Stark Marked gene: FOXL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4667 | FOXL2 | Zornitza Stark Gene: foxl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4667 | 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4666 | FOXL2 | Zornitza Stark Publications for gene: FOXL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4665 | FOXL2 | Zornitza Stark Mode of inheritance for gene: FOXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4664 | 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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| Mendeliome v0.4664 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | FOXL2 |
Zornitza Stark gene: FOXL2 was added gene: FOXL2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXL2 was set to Unknown |
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