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| Mendeliome v2.356 | PTPRG | Bryony Thompson Marked gene: PTPRG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.356 | PTPRG | Bryony Thompson Gene: ptprg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.356 | PTPRG | Bryony Thompson Classified gene: PTPRG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.356 | PTPRG | Bryony Thompson Gene: ptprg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.355 | PTPRG |
Bryony Thompson gene: PTPRG was added gene: PTPRG was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PTPRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPRG were set to 37056996 Phenotypes for gene: PTPRG were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: PTPRG was set to AMBER Added comment: PMID 37056996 reports 4 de novo heterozygous missense variants (also common poly‑T region variants) presenting with a neurodevelopmental disorder characterised by global developmental delay. No variant‑specific functional assays were performed for the reported missense variants. 2 of the missense are present in gnomAD v4 although rare. Sources: Literature |
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