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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: 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 v1.3957 | Bryony Thompson Copied STR TBX1_TOF_GCN from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3957 | TBX1_TOF_GCN |
Bryony Thompson STR: TBX1_TOF_GCN was added STR: TBX1_TOF_GCN was added to Mendeliome. Sources: Expert Review Green,Literature paediatric-onset tags were added to STR: TBX1_TOF_GCN. Mode of inheritance for STR: TBX1_TOF_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: TBX1_TOF_GCN were set to 19948535; 11748311 Phenotypes for STR: TBX1_TOF_GCN were set to Tetralogy of Fallot MIM#187500 |
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| Mendeliome v1.3509 | TBX19 |
Chirag Patel Source Victorian Clinical Genetics Services was removed from TBX19. Source Expert List was added to TBX19. Publications for gene TBX19 were changed from 15613420, 31998673, 11290323, 15476446, 22170728 to 15613420, 31998673, 11290323, 15476446, 22170728 |
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| 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 v0.10988 | TBX18 | Zornitza Stark Marked gene: TBX18 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10988 | TBX18 | Zornitza Stark Gene: tbx18 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10988 | TBX18 | Zornitza Stark Phenotypes for gene: TBX18 were changed from to Congenital anomalies of kidney and urinary tract 2, MIM# 143400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10987 | TBX18 | Zornitza Stark Publications for gene: TBX18 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10986 | TBX18 | Zornitza Stark Mode of inheritance for gene: TBX18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10985 | TBX18 | Zornitza Stark reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235987; Phenotypes: Congenital anomalies of kidney and urinary tract 2, MIM# 143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8962 | TBX1 | Zornitza Stark Marked gene: TBX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8962 | TBX1 | Zornitza Stark Gene: tbx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8962 | TBX1 | Zornitza Stark Phenotypes for gene: TBX1 were changed from to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430; Decreased T cells; Hypoparathyroidism; Conotruncal cardiac malformation; velopalatal insufficiency; abnormal facies (cleft palate, prominent tubular nose etc); intellectual disability; Immunodeficiency; thymic hypoplasia or aplasia with resultant T‐cell dysfunction; renal anomalies; autoimmunity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8961 | TBX1 | Zornitza Stark Publications for gene: TBX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8960 | TBX1 | Zornitza Stark Mode of inheritance for gene: TBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8959 | TBX1 | Zornitza Stark Tag SV/CNV tag was added to gene: TBX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8959 | TBX1 | Zornitza Stark reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301696, 31830774, 16684884; Phenotypes: DiGeorge syndrome MIM# 188400, Velocardiofacial syndrome MIM# 192430, Decreased T cells, Hypoparathyroidism, Conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies (cleft palate, prominent tubular nose etc), intellectual disability, Immunodeficiency, thymic hypoplasia or aplasia with resultant T‐cell dysfunction, renal anomalies, autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2029 | TBX19 | Zornitza Stark Marked gene: TBX19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2029 | TBX19 | Zornitza Stark Gene: tbx19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2029 | TBX19 | Zornitza Stark Phenotypes for gene: TBX19 were changed from to Adrenocorticotropic hormone deficiency, 201400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2028 | TBX19 | Zornitza Stark Publications for gene: TBX19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2027 | TBX19 | Zornitza Stark Mode of inheritance for gene: TBX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2013 | TBX19 | Kristin Rigbye reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 15613420, 15613420; Phenotypes: Adrenocorticotropic hormone deficiency, 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | TBX19 |
Zornitza Stark gene: TBX19 was added gene: TBX19 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX19 was set to Unknown |
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| Mendeliome v0.0 | TBX18 |
Zornitza Stark gene: TBX18 was added gene: TBX18 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX18 was set to Unknown |
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| 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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| Mendeliome v0.0 | TBX1 |
Zornitza Stark gene: TBX1 was added gene: TBX1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX1 was set to Unknown |
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