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| Mendeliome v1.5022 | PTPRD |
Sarah Milton changed review comment from: PTPRD encodes protein-tyrosine phosphatase, receptor type D. PMID 31088393 and PMID 37056996 both list PTPRD as a candidate gene for a neurodevelopmental disorder. PMID 31088393 reports a 5 year old with a de novo canonical splice variant in the gene presenting with moderate non syndromic developmental delay. PMID 37056996 notes 2 missense variants in the gene in individuals with speech and language delay however minimal variant and phenotypic information are provided. GWAS studies have previously linked polymorphisms in the gene to ASD/ADHD/OCD. Supportive functional evidence with loss of PTPRD expression in mice induces aberrant increase of excitatory neurons in embryonic and neonatal mice by hyper-activating the pro-neurogenic receptors TrkB and PDGFRβ in neural precursor cells. Sources: Literature; to: PTPRD encodes protein-tyrosine phosphatase, receptor type D. PMID 31088393 and PMID 37056996 both list PTPRD as a candidate gene for a neurodevelopmental disorder. PMID 31088393 reports a 5 year old with a de novo canonical splice variant in the gene presenting with moderate non syndromic developmental delay. PMID 37056996 notes 2 heterozygous missense variants in the gene in individuals with speech and language delay however minimal variant and phenotypic information are provided. PTPRD is constrained for loss of function with very few heterozygous NMD predicted variants in the population database gnomAD v4. GWAS studies have previously linked polymorphisms in the gene to ASD/ADHD/OCD. Supportive functional evidence with loss of PTPRD expression in mice induces aberrant increase of excitatory neurons in embryonic and neonatal mice by hyper-activating the pro-neurogenic receptors TrkB and PDGFRβ in neural precursor cells. Sources: Literature |
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| Mendeliome v1.5022 | PTPRD | Sarah Milton Classified gene: PTPRD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5022 | PTPRD | Sarah Milton Gene: ptprd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5021 | PTPRD |
Sarah Milton gene: PTPRD was added gene: PTPRD was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PTPRD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPRD were set to 37056996; 31088393; 38890753 Phenotypes for gene: PTPRD were set to Neurodevelopmental disorder, MONDO:0700092, PTPRD related Review for gene: PTPRD was set to AMBER Added comment: PTPRD encodes protein-tyrosine phosphatase, receptor type D. PMID 31088393 and PMID 37056996 both list PTPRD as a candidate gene for a neurodevelopmental disorder. PMID 31088393 reports a 5 year old with a de novo canonical splice variant in the gene presenting with moderate non syndromic developmental delay. PMID 37056996 notes 2 missense variants in the gene in individuals with speech and language delay however minimal variant and phenotypic information are provided. GWAS studies have previously linked polymorphisms in the gene to ASD/ADHD/OCD. Supportive functional evidence with loss of PTPRD expression in mice induces aberrant increase of excitatory neurons in embryonic and neonatal mice by hyper-activating the pro-neurogenic receptors TrkB and PDGFRβ in neural precursor cells. Sources: Literature |
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