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| Malformations of cortical development v3.11 | RAB18 | Arina Puzriakova Tag Q4_21_rating was removed from gene: RAB18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | RAB18 | Arina Puzriakova reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | RAB18 |
Arina Puzriakova Source Expert Review Green was added to RAB18. Source NHS GMS was added to RAB18. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.116 | RAB18 | Ivone Leong Tag Q4_21_rating tag was added to gene: RAB18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.116 | RAB18 | Ivone Leong Classified gene: RAB18 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.116 | RAB18 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (Definitive). There is enough evidence to support a gene-disease association. This gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.116 | RAB18 | Ivone Leong Gene: rab18 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.115 | RAB18 | Ivone Leong Phenotypes for gene: RAB18 were changed from Warburg micro syndrome 3, MIM# 614222 to Warburg micro syndrome 3, OMIM:614222 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.13 | RAB18 |
Zornitza Stark gene: RAB18 was added gene: RAB18 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB18 were set to 21473985; 23420520 Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, MIM# 614222 Review for gene: RAB18 was set to GREEN Added comment: Polymicrogyria is a well described phenotypic feature in Micro syndrome, caused by RAB18 and other genes. PMID: 21473985 – two unrelated families with polymicrogyria PMID: 23420520 – one proband with polymicrogyria Sources: Expert list |
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