Activity
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13 actions
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| Intracerebral calcification disorders v1.34 | KIAA1161 | Eleanor Williams Tag gene-checked tag was added to gene: KIAA1161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.17 | KIAA1161 | Louise Daugherty Publications for gene: KIAA1161 were set to 29910000; 30589467; 30656188; 30649222 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.15 | KIAA1161 | Louise Daugherty Classified gene: KIAA1161 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.15 | KIAA1161 | Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.15 | KIAA1161 | Louise Daugherty Gene: kiaa1161 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.14 | KIAA1161 | Louise Daugherty Added comment: Comment on publications: added further publications to support green rating. Arkadir et al. (2019) PMID: 30656188 reported 2 unrelated families of Middle Eastern origin with IBGC7 (Basal ganglia cancification, idiopathic, 7). Forouhideh et al. (2019) PMID: ;30649222 reported 4 sibs, born of consanguineous Turkish parents, with IBGC7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.14 | KIAA1161 | Louise Daugherty Publications for gene: KIAA1161 were set to 29910000; 30589467 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.13 | KIAA1161 | Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.13 | KIAA1161 | Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Primary Familial Brain Calcification to Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.12 | KIAA1161 | Louise Daugherty Publications for gene: KIAA1161 were set to PMID: 29910000; 30589467 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.11 | KIAA1161 | Louise Daugherty commented on gene: KIAA1161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.11 | KIAA1161 | Louise Daugherty Tag new-gene-name tag was added to gene: KIAA1161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.11 | KIAA1161 |
Raquel Real gene: KIAA1161 was added gene: KIAA1161 was added to Intracerebral calcification disorders. Sources: Literature Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1161 were set to PMID: 29910000; 30589467 Phenotypes for gene: KIAA1161 were set to Primary Familial Brain Calcification Penetrance for gene: KIAA1161 were set to unknown Review for gene: KIAA1161 was set to GREEN Added comment: Yao et al (2018) identified 9 biallelic mutations in MYORG in 6 families with autosomal recessive Primary Familial Brain Calcification (PFBC) that co-segregated completely with the disease. MYORG mutations accounted for 46% of PFBC families with recessive mode of inheritance. No mutations were found in 1000 healthy controls. In a KO mouse model, brain calcium phosphate deposits could be observed. In a more recent study, Chen et al (2018) also identified 4 biallelic mutations segregating in 4 autosomal recessive PFBC families. Sources: Literature |
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