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| Intestinal failure or congenital diarrhoea v1.48 | SKIV2L | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.48 | SKIV2L | Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.48 | SKIV2L | Sarah Leigh edited their review of gene: SKIV2L: Added comment: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; Changed publications to: 27302973, 22444670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.48 | SKIV2L | Eleanor Williams commented on gene: SKIV2L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.19 | SKIV2L | Ivone Leong Added comment: Comment on publications: 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.19 | SKIV2L | Ivone Leong Publications for gene: SKIV2L were set to 22444670; 27302973; 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.18 | SKIV2L | Ivone Leong Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2 614602 to Trichohepatoenteric syndrome 2, OMIM:614602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v0.12 | SKIV2L | Ivone Leong Marked gene: SKIV2L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v0.12 | SKIV2L | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v0.12 | SKIV2L | Ivone Leong Gene: skiv2l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v0.10 | SKIV2L |
Ivone Leong Source Other was added to SKIV2L. Mode of inheritance for gene SKIV2L was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Trichohepatoenteric syndrome 2 614602 for gene: SKIV2L Publications for gene SKIV2L were changed from to 22444670; 27302973; 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease. |
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| Intestinal failure or congenital diarrhoea v0.4 | SKIV2L |
Ivone Leong Source Expert Review Green was added to SKIV2L. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Intestinal failure or congenital diarrhoea v0.3 | SKIV2L | Ivone Leong reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v0.2 | SKIV2L |
Ivone Leong gene: SKIV2L was added gene: SKIV2L was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: SKIV2L was set to |
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