Activity
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| Structural basal ganglia disorders v1.32 | KIAA1161 | Eleanor Williams Tag gene-checked tag was added to gene: KIAA1161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural basal ganglia disorders v1.17 | KIAA1161 | Louise Daugherty edited their review of gene: KIAA1161: Changed phenotypes: Autosomal Recessive Primary Familial Brain Calcification, Basal ganglia calcification, idiopathic, 7, autosomal recessive, Calcifications in the basal ganglia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural basal ganglia disorders v1.17 | KIAA1161 | Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive; Calcifications in the basal ganglia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural basal ganglia disorders v1.16 | KIAA1161 | Louise Daugherty Classified gene: KIAA1161 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural basal ganglia disorders v1.16 | KIAA1161 | Louise Daugherty Added comment: Comment on list classification: Appropriate phenotype, sufficient cases all support gene-disease association and relevance to this panel to rate gene to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural basal ganglia disorders v1.16 | KIAA1161 | Louise Daugherty Gene: kiaa1161 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural basal ganglia disorders v1.15 | KIAA1161 | Louise Daugherty commented on gene: KIAA1161: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural basal ganglia disorders v1.15 | KIAA1161 | Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural basal ganglia disorders v1.14 | KIAA1161 | Louise Daugherty commented on gene: KIAA1161: added new-gene-name tag, new approved HGNC gene symbol for KIAA1161 is MYORG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural basal ganglia disorders v1.14 | KIAA1161 |
Louise Daugherty gene: KIAA1161 was added gene: KIAA1161 was added to Structural basal ganglia disorders. Sources: Expert Review new-gene-name tags were added to gene: KIAA1161. Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1161 were set to 29910000; 30589467; 30656188; 30649222; 31009047 Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive Review for gene: KIAA1161 was set to GREEN Added comment: Sources: Expert Review |
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