Activity
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| Embryonal tumour of possible germline origin v0.7 | CDKN1C | Achchuthan Shanmugasundram commented on gene: CDKN1C: CDKN1C has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.2 | CDKN1C | Achchuthan Shanmugasundram reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MONDO:0007534, Beckwith-Wiedemann syndrome, OMIM:130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.1 | CDKN1C |
Achchuthan Shanmugasundram gene: CDKN1C was added gene: CDKN1C was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MONDO:0007534; Beckwith-Wiedemann syndrome, OMIM:130650 |
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