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| Albinism or congenital nystagmus v1.22 | DCT | Ivone Leong Tag for-review was removed from gene: DCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.22 | DCT | Ivone Leong commented on gene: DCT: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.21 | DCT |
Ivone Leong Source Expert Review Green was added to DCT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Albinism or congenital nystagmus v1.17 | DCT | Ivone Leong Classified gene: DCT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.17 | DCT |
Ivone Leong Added comment: Comment on list classification: New gene added by Simon Ramsden (NHS). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 33100333 describes 2 unrelated patients with variants in DCT. Both patients had mild hair and skin hypopigmentation, and classical ocular features. The paper also describes a mouse model and zebrafish model which replicate the human phenotype. There is enough evidence to support a gene-disease associaton. Therefore, this gene should be promoted to Green status at the next review. |
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| Albinism or congenital nystagmus v1.17 | DCT | Ivone Leong Gene: dct has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.16 | DCT | Ivone Leong Tag for-review tag was added to gene: DCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.16 | DCT | Ivone Leong Publications for gene: DCT were set to PMID 33100333 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.10 | DCT |
Simon Ramsden gene: DCT was added gene: DCT was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCT were set to PMID 33100333 Phenotypes for gene: DCT were set to Ocutaneous albinism Penetrance for gene: DCT were set to Complete Review for gene: DCT was set to GREEN Added comment: This is a newly described gene that should be considered for inclusion in the Albinism panel Sources: NHS GMS |
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