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Mendeliome v1.3296 GTF2I Zornitza Stark Marked gene: GTF2I as ready
Mendeliome v1.3296 GTF2I Zornitza Stark Gene: gtf2i has been classified as Green List (High Evidence).
Mendeliome v1.3292 GTF2I Zornitza Stark Classified gene: GTF2I as Green List (high evidence)
Mendeliome v1.3292 GTF2I Zornitza Stark Gene: gtf2i has been classified as Green List (High Evidence).
Mendeliome v1.3291 GTF2I Zornitza Stark gene: GTF2I was added
gene: GTF2I was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GTF2I was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GTF2I were set to 40962490
Phenotypes for gene: GTF2I were set to Neurodevelopmental disorder MONDO:0700092, GTF2I-related
Review for gene: GTF2I was set to GREEN
Added comment: 7 individuals reported with de novo variants in this gene and a neurodevelopmental disorder. All but one of the variants are absent from gnomAD v4 (one het present for the indel variant).
Sources: Literature