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| Deafness_IsolatedAndComplex v1.2 | AP1B1 | Zornitza Stark Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150; Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.1 | AP1B1 | Zornitza Stark edited their review of gene: AP1B1: Changed phenotypes: Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150, Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.135 | AP1B1 | Zornitza Stark Marked gene: AP1B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.135 | AP1B1 | Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.135 | AP1B1 | Zornitza Stark Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.134 | AP1B1 | Zornitza Stark Classified gene: AP1B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.134 | AP1B1 | Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.133 | AP1B1 |
Zornitza Stark gene: AP1B1 was added gene: AP1B1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1B1 were set to 31630788; 31630791 Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; peripheral neuropathy; ichthyosis; keratoderma Review for gene: AP1B1 was set to GREEN Added comment: Four families reported with bi-allelic LoF variants in this gene. Sources: Literature |
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