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| Intestinal failure or congenital diarrhoea v1.48 | AP1S1 | Ivone Leong Tag Q2_21_rating was removed from gene: AP1S1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.48 | AP1S1 | Eleanor Williams commented on gene: AP1S1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.47 | AP1S1 |
Ivone Leong Source Expert Review Green was added to AP1S1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intestinal failure or congenital diarrhoea v1.40 | AP1S1 | Ivone Leong Publications for gene: AP1S1 were set to 32306098; 15668823, 19057675, 23423674, 30244301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.39 | AP1S1 | Ivone Leong Classified gene: AP1S1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.39 | AP1S1 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. After discussion with the Genomics England Clinical Team it was decided that it was appropriate to consider all evidence (including the cases that have an intestinal phenotype for this gene - MEDNIK syndrome), therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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| Intestinal failure or congenital diarrhoea v1.39 | AP1S1 | Ivone Leong Gene: ap1s1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.38 | AP1S1 | Ivone Leong Tag Q2_21_rating tag was added to gene: AP1S1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.38 | AP1S1 | Ivone Leong Phenotypes for gene: AP1S1 were changed from Non-syndromic congenital intestinal failure to Non-syndromic congenital intestinal failure; MEDNIK syndrome, OMIM:609313 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.37 | AP1S1 | Ivone Leong Publications for gene: AP1S1 were set to 32306098 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.5 | AP1S1 |
Zornitza Stark gene: AP1S1 was added gene: AP1S1 was added to Intestinal failure. Sources: Literature Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1S1 were set to 32306098 Phenotypes for gene: AP1S1 were set to Non-syndromic congenital intestinal failure Review for gene: AP1S1 was set to AMBER Added comment: - Established gene-disease association with MEDNIK syndrome - PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease - 2 consanguineous families, each carrying a homozygous missense AP1S1 variant - AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense variants. Sources: Literature |
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