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| Malformations of cortical development v3.11 | RAB3GAP2 | Arina Puzriakova Tag Q4_21_rating was removed from gene: RAB3GAP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | RAB3GAP2 | Arina Puzriakova reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | RAB3GAP2 |
Arina Puzriakova Source Expert Review Green was added to RAB3GAP2. Source NHS GMS was added to RAB3GAP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.129 | RAB3GAP2 | Sarah Leigh Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, OMIM:614225 to Warburg micro syndrome 2, OMIM:614225; Warburg micro syndrome 2 MONDO:0013641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.128 | RAB3GAP2 | Sarah Leigh Publications for gene: RAB3GAP2 were set to 23420520; 20967465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.127 | RAB3GAP2 | Sarah Leigh Tag Q4_21_rating tag was added to gene: RAB3GAP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.127 | RAB3GAP2 | Sarah Leigh edited their review of gene: RAB3GAP2: Added comment: Associated with relevant phenotype in OMIM, but not associated with Warburg micro syndrome 2 OMIM:614225 in Gen2Phen. At least four variants reported in at least four unrelated cases..; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.127 | RAB3GAP2 | Sarah Leigh Classified gene: RAB3GAP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.127 | RAB3GAP2 | 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 v2.127 | RAB3GAP2 | Sarah Leigh Gene: rab3gap2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.98 | RAB3GAP2 | Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, MIM# 614225 to Warburg micro syndrome 2, OMIM:614225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.13 | RAB3GAP2 |
Zornitza Stark gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP2 were set to 23420520; 20967465 Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, MIM# 614225 Review for gene: RAB3GAP2 was set to GREEN gene: RAB3GAP2 was marked as current diagnostic Added comment: Polymicrogyria is a well described phenotypic feature in Micro syndrome caused by variants in RAB3GAP2 and other genes. PMID: 23420520 – at least 3 unrelated families with polymicrogyria PMID: 20967465 - single proband with polymicrogyria Sources: Expert list |
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