| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Likely inborn error of metabolism - targeted testing not possible v2.250 | TRAP1 | Catherine Snow Tag gene-checked tag was added to gene: TRAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.374 | TRAP1 | Catherine Snow Mode of inheritance for gene: TRAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.376 | TRAP1 | Catherine Snow Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.375 | TRAP1 | Catherine Snow Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.375 | TRAP1 | Catherine Snow Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.375 | TRAP1 | Catherine Snow Mode of inheritance for gene: TRAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.375 | TRAP1 | Catherine Snow Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.375 | TRAP1 | Catherine Snow Phenotypes for gene: TRAP1 were changed from to VACTERL; CAKUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.374 | TRAP1 | Catherine Snow Classified gene: TRAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.374 | TRAP1 | Catherine Snow Gene: trap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.374 | TRAP1 | Catherine Snow Mode of inheritance for gene: TRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.374 | TRAP1 | Catherine Snow Classified gene: TRAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.374 | TRAP1 | Catherine Snow Gene: trap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.373 | TRAP1 | Catherine Snow reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: VACTERL, CAKUT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | TRAP1 |
Ellen McDonagh gene: TRAP1 was added gene: TRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRAP1 was set to Unknown Publications for gene: TRAP1 were set to PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. |
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