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Intellectual disability syndromic and non-syndromic v0.2150 | PLEKHG2 | Zornitza Stark Marked gene: PLEKHG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2150 | PLEKHG2 | Zornitza Stark Gene: plekhg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2150 | PLEKHG2 | Zornitza Stark Classified gene: PLEKHG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2150 | PLEKHG2 | Zornitza Stark Gene: plekhg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2149 | PLEKHG2 |
Zornitza Stark gene: PLEKHG2 was added gene: PLEKHG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG2 were set to 26539891; 24001768; 26573021 Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, 616763 Review for gene: PLEKHG2 was set to AMBER Added comment: Three families reported; however, two had the same homozygous variant (founder effect). Sources: Expert list |