Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.34 | ERCC1 | Arina Puzriakova Phenotypes for gene: ERCC1 were changed from xeroderma pigmentosum, MONDO:0019600 to hepatocellular carcinoma, MONDO:0007256 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.33 | ERCC1 | Arina Puzriakova Classified gene: ERCC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.33 | ERCC1 | Arina Puzriakova Added comment: Comment on list classification: Downgraded from Amber to Red as typically childhood onset. Could only identify one report (conference abstract) describing "First Report of ERCC1-Associated Adult-Onset Hepatocellular Carcinoma, Ataxia, and Cognitive Decline" due to a homozygous variant c.466 C>T, p.(Arg156Trp) in exon 4 - https://www.mdsabstracts.org/abstract/first-report-of-ercc1-associated-adult-onset-hepatocellular-carcinoma-ataxia-and-cognitive-decline/ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.33 | ERCC1 | Arina Puzriakova Gene: ercc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.32 | ERCC1 | Arina Puzriakova Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosa to xeroderma pigmentosum, MONDO:0019600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.31 | ERCC1 | Arina Puzriakova Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 to Xeroderma Pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.4 | ERCC1 |
Ivone Leong gene: ERCC1 was added gene: ERCC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC1 were set to Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||