Activity
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| Childhood solid tumours v5.7 | SPRTN |
Ida Ertmanska gene: SPRTN was added gene: SPRTN was added to Childhood solid tumours. Sources: Other Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRTN were set to 12503110; 25261934; 25501849 Phenotypes for gene: SPRTN were set to Ruijs-Aalfs syndrome, OMIM:616200; progeroid features-hepatocellular carcinoma predisposition syndrome, MONDO:0014527 Review for gene: SPRTN was set to AMBER Added comment: PMID: 25261934 Lessel et al., 2014 Reported biallelic germline mutations in SPRTN in three patients from two unrelated families, affected by a new segmental progeroid syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma. Seq method: linkage analysis + WES. Family A: NM_032018.7:c.723del, p.Lys241Asnfs*9 homozygous Family A originally described in PMID: 12503110 Ruijs et al., 2003 - Report of a Moroccan boy from a consanguineous family with chromosomal breakage syndrome, who died at 17yo due to hepatocellular carcinoma. Presented with short stature, bilateral cataracts, premature hair graying. Family B: NM_032018.7:c.350A>G, p.Tyr117Cys & c.717_718+2delAGGT compound heterozygous Family B = nonconsanguineous Australian family of European ancestry. 2 affected male sibs B-II:1 and B-II:4 presented with low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age and mild joint restrictions. Both individuals developed early onset HCC at age 16 and 14. FUNCTIONAL EVIDENCE: PMID: 25501849: Maskey et al., 2014: Spartan insufficiency in mice causes chromosomal instability, cellular senescence and early onset of age-related phenotypes. Complete Spartan knockout causes early embryonic lethality; hypomorphic mice are viable, but growth retarded and develop cataracts, lordokyphosis and cachexia at a young age. Mouse model recapitulated human phenotype, except for the carcinoma susceptibility (no tumours detected in 1 year old Spartan-deficient mice). SPRTN is associated with AR Ruijs-Aalfs syndrome, OMIM:616200 (OMIM accessed 13th Nov 2025). Sources: Other |
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| Childhood solid tumours v1.27 | REST | Ivone Leong reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.26 | REST |
Ivone Leong Source NHS GMS was added to REST. Added phenotypes {Wilms tumor 6, susceptibility to} 616806 for gene: REST |
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| Childhood solid tumours v1.23 | REST | Lara Hawkes reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616806; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.22 | REST |
Ivone Leong Source Expert List was added to REST. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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