Activity
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| Intestinal failure or congenital diarrhoea v3.6 | AP1B1 | Achchuthan Shanmugasundram Classified gene: AP1B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.6 | AP1B1 | Achchuthan Shanmugasundram Gene: ap1b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.5 | AP1B1 |
Ida Ertmanska changed review comment from: Comment on list classification: There are 3 individuals from 2 families reported in literature presenting with neonatal onset enteropathy and/or chronic diarrhea (PMIDs:32969855; 31630791). The individuals were diagnosed with Keratitis-ichthyosis-deafness syndrome and harboured biallelic variants in AP1B1. Several other individuals with biallelic AP1B1 variants did not present with diarrhea. Hence, this gene should be rated Amber for Intestinal failure or congenital diarrhoea. Sources: Literature; to: Comment on list classification: There are 3 individuals from 2 families reported in literature presenting with neonatal onset enteropathy and/or chronic diarrhea (PMIDs:32969855; 31630791). The individuals were diagnosed with Keratitis-ichthyosis-deafness syndrome and harboured biallelic variants in AP1B1. Several other individuals with biallelic AP1B1 variants did not present with diarrhea. Hence, this gene should be rated Amber for Intestinal failure or congenital diarrhoea. AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025). This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024). |
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| Intestinal failure or congenital diarrhoea v3.5 | AP1B1 |
Ida Ertmanska changed review comment from: Comment on list classification: There are 3 individuals from 2 families reported in literature presenting with early onset enteropathy and/or chronic diarrhea (PMIDs:32969855; 31630791). The individuals were diagnosed with Keratitis-ichthyosis-deafness syndrome and harboured biallelic variants in AP1B1. Several other individuals with biallelic AP1B1 variants did not present with diarrhea. Hence, this gene should be rated Amber for Intestinal failure or congenital diarrhoea. Sources: Literature; to: Comment on list classification: There are 3 individuals from 2 families reported in literature presenting with neonatal onset enteropathy and/or chronic diarrhea (PMIDs:32969855; 31630791). The individuals were diagnosed with Keratitis-ichthyosis-deafness syndrome and harboured biallelic variants in AP1B1. Several other individuals with biallelic AP1B1 variants did not present with diarrhea. Hence, this gene should be rated Amber for Intestinal failure or congenital diarrhoea. Sources: Literature |
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| Intestinal failure or congenital diarrhoea v3.5 | AP1B1 |
Ida Ertmanska changed review comment from: Comment on list classification: There are 3 individuals from 2 families reported in literature presenting with early onset enteropathy and/or chronic diarrhea. The individuals were diagnosed with Keratitis-ichthyosis-deafness syndrome and harboured biallelic variants in AP1B1. Several other individuals with biallelic AP1B1 variants did not present with diarrhea. Hence, this gene should be rated Amber for Intestinal failure or congenital diarrhoea. Sources: Literature; to: Comment on list classification: There are 3 individuals from 2 families reported in literature presenting with early onset enteropathy and/or chronic diarrhea (PMIDs:32969855; 31630791). The individuals were diagnosed with Keratitis-ichthyosis-deafness syndrome and harboured biallelic variants in AP1B1. Several other individuals with biallelic AP1B1 variants did not present with diarrhea. Hence, this gene should be rated Amber for Intestinal failure or congenital diarrhoea. Sources: Literature |
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| Intestinal failure or congenital diarrhoea v3.5 | AP1B1 |
Ida Ertmanska gene: AP1B1 was added gene: AP1B1 was added to Intestinal failure or congenital diarrhoea. Sources: Literature Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1B1 were set to 32969855; 31630791 Phenotypes for gene: AP1B1 were set to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150; KID syndrome, MONDO:0018781 Review for gene: AP1B1 was set to AMBER Added comment: Comment on list classification: There are 3 individuals from 2 families reported in literature presenting with early onset enteropathy and/or chronic diarrhea. The individuals were diagnosed with Keratitis-ichthyosis-deafness syndrome and harboured biallelic variants in AP1B1. Several other individuals with biallelic AP1B1 variants did not present with diarrhea. Hence, this gene should be rated Amber for Intestinal failure or congenital diarrhoea. Sources: Literature |
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