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| Intellectual disability syndromic and non-syndromic v0.1977 | GJB1 | Zornitza Stark edited their review of gene: GJB1: Added comment: PMID 26385972 reports cognitive impairment in 4 adult cases and PMID 23279342 reports a proband and her sister with severe neuropathy and subclinical cognitive impairment, while the proband's brother showed severe cognitive impairment and mild neuropathy. Based on the current evidence, ID does not appear to be a prominent or consistent part of the phenotype of this neuropathy.; Changed publications: 26385972, 23279342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GJB1 | Zornitza Stark Marked gene: GJB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GJB1 | Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GJB1 | Zornitza Stark Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.283 | GJB1 | Zornitza Stark Classified gene: GJB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.283 | GJB1 | Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.282 | GJB1 | Zornitza Stark reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | GJB1 |
Zornitza Stark gene: GJB1 was added gene: GJB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GJB1 was set to Unknown |
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