| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.292 | PTPN18 | Bryony Thompson Marked gene: PTPN18 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.292 | PTPN18 | Bryony Thompson Gene: ptpn18 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.292 | PTPN18 | Bryony Thompson Classified gene: PTPN18 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.292 | PTPN18 | Bryony Thompson Gene: ptpn18 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.291 | PTPN18 |
Bryony Thompson gene: PTPN18 was added gene: PTPN18 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PTPN18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN18 were set to 37056996 Phenotypes for gene: PTPN18 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: PTPN18 was set to AMBER Added comment: PMID 37056996 reports 4 individuals from 4 families with de novo heterozygous splice‑region and missense variants presenting with a neurodevelopmental disorder characterised by autistic behaviour, delayed speech and intellectual disability. No variant‑specific functional validation was performed. One of the missense (Gln371Arg) has 7 hets in gnomAD v4, 2 hets in the South Asian population. This is higher than expected for an AD neurodevelopmental disorder. Sources: Literature |
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