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| Mendeliome v2.0 | PLEKHG2 | Gene migrated from ENSG00000090924 to ENSG00000090924 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4644 | PLEKHG2 | Rylee Peters Publications for gene: PLEKHG2 were set to 26573021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4643 | PLEKHG2 | Rylee Peters reviewed gene: PLEKHG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40594583; Phenotypes: Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1348 | PLEKHG2 | Zornitza Stark Classified gene: PLEKHG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1348 | PLEKHG2 | Zornitza Stark Gene: plekhg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1347 | PLEKHG2 | Zornitza Stark edited their review of gene: PLEKHG2: Added comment: Further family identified, promote to Amber.; Changed rating: AMBER; Changed publications: 26539891, 24001768, 26573021; Changed phenotypes: Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.667 | PLEKHG2 | Zornitza Stark Marked gene: PLEKHG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.667 | PLEKHG2 | Zornitza Stark Gene: plekhg2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.667 | PLEKHG2 |
Zornitza Stark gene: PLEKHG2 was added gene: PLEKHG2 was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG2 were set to 26573021 Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763 Review for gene: PLEKHG2 was set to RED Added comment: Five individuals from two unrelated families reported, same homozygous missense variant. Sources: Expert list |
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