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| DDG2P v3.64 | XYLT1 | Achchuthan Shanmugasundram Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 to DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.64 | XYLT1 | Achchuthan Shanmugasundram Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 to DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.64 | XYLT1 | Achchuthan Shanmugasundram Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 615777; Baratela Scott Syndrome to DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.63 | XYLT1 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: XYLT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.63 | XYLT1 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DESBUQUOIS DYSPLASIA 2, OMIM:615777 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:24581741). The DDG2P confidence category for the disease Baratela Scott Syndrome, OMIM:615777 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and cis-regulatory or promotor mutation (PMID:30554721).; to: The DDG2P confidence category for the disease DESBUQUOIS DYSPLASIA 2, OMIM:615777 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:24581741). The DDG2P confidence category for the disease Baratela Scott Syndrome, OMIM:615777 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and cis-regulatory or promotor mutation (PMID:30554721). |
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| DDG2P v3.12 | XYLT1 | Achchuthan Shanmugasundram reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24581741, 30554721; Phenotypes: DESBUQUOIS DYSPLASIA 2, OMIM:615777, Baratela Scott Syndrome, OMIM:615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.35 | XYLT1 | Rebecca Foulger Publications for gene: XYLT1 were set to 24581741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.34 | XYLT1 | Rebecca Foulger commented on gene: XYLT1: Added 'watchlist' tag to highlight different DD-G2P Disease confidence ratings for different disorders: Rated confirmed for DESBUQUOIS DYSPLASIA 2. Rated probable for 'Baratela Scott Syndrome (added to Gene2Phenotype, March 2019). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.34 | XYLT1 | Rebecca Foulger commented on gene: XYLT1: New gene:disorder association added to DDG2P in March 2019: Baratela Scott Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: cis-regulatory or promotor mutation. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.34 | XYLT1 | Rebecca Foulger Tag watchlist tag was added to gene: XYLT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.34 | XYLT1 | Rebecca Foulger Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 615777 to DESBUQUOIS DYSPLASIA 2 615777; Baratela Scott Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | TMEM5 | Rebecca Foulger commented on gene: TMEM5: Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | XYLT1 | Rebecca Foulger reviewed gene: XYLT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | XYLT1 |
Rebecca Foulger gene: XYLT1 was added gene: XYLT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT1 were set to 24581741 Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2 615777 |
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