| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Albinism or congenital nystagmus v1.27 | CNGB3 | Arina Puzriakova Classified gene: CNGB3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.27 | CNGB3 | Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update (sufficient number of cases, already green on other panels, phenotypic relevance confirmed by clinician). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.27 | CNGB3 | Arina Puzriakova Gene: cngb3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.26 | CNGB3 |
Arina Puzriakova gene: CNGB3 was added gene: CNGB3 was added to Albinism or congenital nystagmus. Sources: Expert Review Q4_22_promote_green tags were added to gene: CNGB3. Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNGB3 were set to 10888875; 10958649; 35332618 Phenotypes for gene: CNGB3 were set to Achromatopsia 3, OMIM:262300 Review for gene: CNGB3 was set to GREEN Added comment: Added to this panel following suggestion from Dr Helen Brittain (Genomics England Clinical Team) who highlighted a patient who would have benefitted from inclusion of CNGB3 on R39 Albinism or congenital nystagmus. Biallelic variants cause achromatopsia, featuring total colour blindness, photophobia, reduced visual acuity and nystagmus. Sources: Expert Review |
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