Cancer Predisposition_Paediatric
Gene: ELP1EnsemblGeneIds (GRCh38): ENSG00000070061
EnsemblGeneIds (GRCh37): ENSG00000070061
OMIM: 603722, Gene2Phenotype
ELP1 is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Medulloblastoma predisposition: association identified for heterozygous ELP1 loss of function variants with paediatric medulloblastoma with exome-wide significance, specifically associated with the sonic hedgehog (SHH) subtype. Association was validated in additional paediatric cohorts. Monoallelic germline loss of function variants identified in 29/202 paediatric medulloblastoma SHH cases (absent from adult patients) and loss of heterozygosity of the ELP1 wild-type allele was present in all tumours. Segregation was reported in one family and expected in another.
Sources: LiteratureCreated: 27 May 2020, 5:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paediatric medulloblastoma sonic hedgehog subtype
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Paediatric medulloblastoma sonic hedgehog subtype
- OMIM
- 603722
- Clinvar variants
- Variants in ELP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Medulloblastoma
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Pain syndromes
- Cancer Predisposition_Paediatric
- Autonomic neuropathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: elp1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: elp1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ELP1 was added gene: ELP1 was added to Cancer Predisposition_Paediatric. Sources: Literature Mode of inheritance for gene: ELP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELP1 were set to 32296180 Phenotypes for gene: ELP1 were set to Paediatric medulloblastoma sonic hedgehog subtype Review for gene: ELP1 was set to GREEN