| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4799 | TBX15 | Zornitza Stark Phenotypes for gene: TBX15 were changed from Cousin syndrome, MIM# 260660 to Cousin syndrome, MIM# 260660; Cleft palate, MONDO:0016064, TBX15-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4798 | TBX15 | Zornitza Stark Publications for gene: TBX15 were set to 19068278; 24039145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4797 | TBX15 | Zornitza Stark Mode of inheritance for gene: TBX15 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4796 | TBX15 | Zornitza Stark edited their review of gene: TBX15: Changed publications: 41904889, 40693652, 36124393, 40693652 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4796 | TBX15 |
Zornitza Stark changed review comment from: PMID 36124393 reports 2 individuals from 2 unrelated families with de novo heterozygous TBX15 missense (c.370A>C, c.1549C>A) causing soft palate dysplasia; PMID 41904889 reports 3 individuals from 1 family with heterozygous TBX15 nonsense (c.1231C>T) co‑segregating with submucous cleft palate. All heterozygous variants are loss‑of‑function, supported by luciferase reporter loss, ChIP loss of promoter binding, and immunofluorescence mis‑localisation. Evidence for mono allelic is Amber, given borderline number of families and postulated association with a relatively common phenotype, which is typically not monogenic.; to: PMID 36124393 reports 2 individuals from 2 unrelated families with de novo heterozygous TBX15 missense (c.370A>C, c.1549C>A) causing soft palate dysplasia; PMID 41904889 reports 3 individuals from 1 family with heterozygous TBX15 nonsense (c.1231C>T) co‑segregating with submucous cleft palate. All heterozygous variants are loss‑of‑function, supported by luciferase reporter loss, ChIP loss of promoter binding, and immunofluorescence mis‑localisation. Evidence for mono allelic is Amber, given borderline number of families and postulated association with a relatively common phenotype, which is typically not monogenic. PMID 40693652 reports a further individual with biallelic TBX15 missense (c.709A>G) causing a milder form of Cousin syndrome. |
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| Mendeliome v1.4796 | TBX15 | Zornitza Stark changed review comment from: Cleft palate, multiple skeletal abnormalities. Three families reported.; to: Cousin syndrome: Cleft palate, multiple skeletal abnormalities. Three families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4796 | TBX15 |
Zornitza Stark changed review comment from: PMID 36124393 reports 2 individuals from 2 unrelated families with de novo heterozygous TBX15 missense (c.370A>C, c.1549C>A) causing soft palate dysplasia; PMID 41904889 reports 3 individuals from 1 family with heterozygous TBX15 nonsense (c.1231C>T) co‑segregating with submucous cleft palate. All heterozygous variants are loss‑of‑function, supported by luciferase reporter loss, ChIP loss of promoter binding, and immunofluorescence mis‑localisation.; to: PMID 36124393 reports 2 individuals from 2 unrelated families with de novo heterozygous TBX15 missense (c.370A>C, c.1549C>A) causing soft palate dysplasia; PMID 41904889 reports 3 individuals from 1 family with heterozygous TBX15 nonsense (c.1231C>T) co‑segregating with submucous cleft palate. All heterozygous variants are loss‑of‑function, supported by luciferase reporter loss, ChIP loss of promoter binding, and immunofluorescence mis‑localisation. Evidence for mono allelic is Amber, given borderline number of families and postulated association with a relatively common phenotype, which is typically not monogenic. |
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| Mendeliome v1.4796 | TBX15 | Zornitza Stark edited their review of gene: TBX15: Added comment: PMID 36124393 reports 2 individuals from 2 unrelated families with de novo heterozygous TBX15 missense (c.370A>C, c.1549C>A) causing soft palate dysplasia; PMID 41904889 reports 3 individuals from 1 family with heterozygous TBX15 nonsense (c.1231C>T) co‑segregating with submucous cleft palate. All heterozygous variants are loss‑of‑function, supported by luciferase reporter loss, ChIP loss of promoter binding, and immunofluorescence mis‑localisation.; Changed publications: 41904889, 40693652, 36124393; Changed phenotypes: Pelviscapular dysplasia (Cousin syndrome), MONDO:0009845, Cleft palate, MONDO:0016064, TBX15-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10991 | TBX15 | Zornitza Stark Marked gene: TBX15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10991 | TBX15 | Zornitza Stark Gene: tbx15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10991 | TBX15 | Zornitza Stark Phenotypes for gene: TBX15 were changed from to Cousin syndrome, MIM# 260660 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10990 | TBX15 | Zornitza Stark Publications for gene: TBX15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10989 | TBX15 | Zornitza Stark Mode of inheritance for gene: TBX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10988 | TBX15 | Zornitza Stark reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068278, 24039145; Phenotypes: Cousin syndrome, MIM# 260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | TBX15 |
Zornitza Stark gene: TBX15 was added gene: TBX15 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX15 was set to Unknown |
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