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| Malformations of cortical development v3.11 | RAB3GAP1 | Arina Puzriakova Tag Q4_21_rating was removed from gene: RAB3GAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | RAB3GAP1 | Arina Puzriakova reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | RAB3GAP1 |
Arina Puzriakova Source Expert Review Green was added to RAB3GAP1. Source NHS GMS was added to RAB3GAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.126 | RAB3GAP1 | Sarah Leigh Publications for gene: RAB3GAP1 were set to 23420520; 32740904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.125 | RAB3GAP1 | Sarah Leigh edited their review of gene: RAB3GAP1: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least 13 variants reported in at least 12 unrelated cases; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.125 | RAB3GAP1 | Sarah Leigh Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, OMIM:600118 to Warburg micro syndrome 1 OMIM:600118; Warburg micro syndrome 1 MONDO:0010822 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.124 | RAB3GAP1 | Sarah Leigh Tag Q4_21_rating tag was added to gene: RAB3GAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.124 | RAB3GAP1 | Sarah Leigh Classified gene: RAB3GAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.124 | RAB3GAP1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.124 | RAB3GAP1 | Sarah Leigh Gene: rab3gap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.118 | RAB3GAP1 | Ivone Leong Added comment: Comment on publications: More cases PMID: 32740904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.118 | RAB3GAP1 | Ivone Leong Publications for gene: RAB3GAP1 were set to 23420520 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.117 | RAB3GAP1 | Ivone Leong Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, OMIM:600118 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.13 | RAB3GAP1 |
Zornitza Stark gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP1 were set to 23420520 Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, MIM# 600118 Review for gene: RAB3GAP1 was set to GREEN gene: RAB3GAP1 was marked as current diagnostic Added comment: Polymicrogyria is a well described phenotypic feature of Micro syndrome, caused by RAB3GAP1 and other genes. PMID: 23420520 - at least 4 unrelated families with polymicrogyria Sources: Expert list |
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