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| Childhood solid tumours v2.31 | ELP1 | Arina Puzriakova Phenotypes for gene: ELP1 were changed from Medulloblastoma predisposition to Medulloblastoma, OMIM:155255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.25 | ELP1 | Arina Puzriakova Tag for-review was removed from gene: ELP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.25 | ELP1 | Arina Puzriakova commented on gene: ELP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.24 | ELP1 |
Arina Puzriakova Source Expert Review Green was added to ELP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood solid tumours v2.11 | ELP1 | Arina Puzriakova Classified gene: ELP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.11 | ELP1 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to to rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.11 | ELP1 | Arina Puzriakova Gene: elp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.10 | ELP1 | Arina Puzriakova Tag for-review tag was added to gene: ELP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.10 | ELP1 |
Arina Puzriakova gene: ELP1 was added gene: ELP1 was added to Tumour predisposition - childhood onset. Sources: Literature Mode of inheritance for gene: ELP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELP1 were set to 32296180 Phenotypes for gene: ELP1 were set to Medulloblastoma predisposition Review for gene: ELP1 was set to GREEN Added comment: PMID: 32296180 (2020) - Recurrent germline LOF variants of ELP1 detected in paediatric medulloblastoma (MB) cases; specifically the Sonic Hedgehog (SHH) subgroup, in which the variants were found in 14.4% (29/202) of patients. Inheritance of germline ELP1 LOF variants was confirmed by WES of three parent-offspring trios, two of which exhibited a family history of paediatric MB. Carriers of these variants tended to develop MB(SHH) as older children (median age at diagnosis: 6.3 years). ELP1-associated MB(SHH) tumours were significantly enriched for somatic alterations of PTCH1 (Sonic Hedgehog receptor), suggesting ELP1 LOF variants predispose to tumour development in combination with constitutive activation of SHH signalling. Sources: Literature |
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