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| Mendeliome v1.4897 | SRRM4 | Chirag Patel Classified gene: SRRM4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4897 | SRRM4 | Chirag Patel Gene: srrm4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4896 | SRRM4 | Chirag Patel Classified gene: SRRM4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4896 | SRRM4 | Chirag Patel Gene: srrm4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4895 | SRRM4 | Chirag Patel Marked gene: SRRM4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4895 | SRRM4 | Chirag Patel Gene: srrm4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4895 | SRRM4 |
Chirag Patel changed review comment from: 3 unrelated individuals with developmental delay, absent speech, intellectual impairment, epilepsy, early‑onset dystonia and chorea (6mths-20mths). Trio WES/WGS identified a de novo canonical splice‑donor variant in SRRM4 in each individual (c.464+2T>C or c.464+2T>A). SRRM4 is an exclusively neural-expressed splicing-factor gene. RNA-sequencing in patient fibroblasts revealed 2 variant-specific mutant SRRM4-mRNA isoforms (1 x isoform lacking exon 5, and 1 x isoform containing a 69-nucleotide elongation of exon 5) suggestive of a mechanism other than loss-of-function. Additionally, they uncovered altered splicing patterns of known SRRM4 downstream mRNA-substrates in patient cells compared to SRRM4 expression-activated control fibroblasts. Sources: Literature; to: 3 unrelated individuals with developmental delay, absent speech, intellectual impairment, epilepsy, early‑onset dystonia and chorea (6mths-20mths). Trio WES/WGS identified a rare de novo canonical splice‑donor variant in SRRM4 in each individual (c.464+2T>C or c.464+2T>A). SRRM4 is an exclusively neural-expressed splicing-factor gene. RNA-sequencing in patient fibroblasts revealed 2 variant-specific mutant SRRM4-mRNA isoforms (1 x isoform lacking exon 5, and 1 x isoform containing a 69-nucleotide elongation of exon 5) suggestive of a mechanism other than loss-of-function. Additionally, they uncovered altered splicing patterns of known SRRM4 downstream mRNA-substrates in patient cells compared to SRRM4 expression-activated control fibroblasts. Sources: Literature |
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| Mendeliome v1.4895 | SRRM4 |
Chirag Patel gene: SRRM4 was added gene: SRRM4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SRRM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRRM4 were set to 41958152 Phenotypes for gene: SRRM4 were set to Neurodevelopmental disorder, MONDO:0700092, SRRM4-related Mode of pathogenicity for gene: SRRM4 was set to Other Review for gene: SRRM4 was set to GREEN Added comment: 3 unrelated individuals with developmental delay, absent speech, intellectual impairment, epilepsy, early‑onset dystonia and chorea (6mths-20mths). Trio WES/WGS identified a de novo canonical splice‑donor variant in SRRM4 in each individual (c.464+2T>C or c.464+2T>A). SRRM4 is an exclusively neural-expressed splicing-factor gene. RNA-sequencing in patient fibroblasts revealed 2 variant-specific mutant SRRM4-mRNA isoforms (1 x isoform lacking exon 5, and 1 x isoform containing a 69-nucleotide elongation of exon 5) suggestive of a mechanism other than loss-of-function. Additionally, they uncovered altered splicing patterns of known SRRM4 downstream mRNA-substrates in patient cells compared to SRRM4 expression-activated control fibroblasts. Sources: Literature |
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