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| Monogenic hearing loss v2.148 | PDSS1 | Ivone Leong Classified gene: PDSS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.148 | PDSS1 | Ivone Leong Gene: pdss1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.147 | PDSS1 |
Ivone Leong gene: PDSS1 was added gene: PDSS1 was added to Hearing loss. Sources: Literature watchlist tags were added to gene: PDSS1. Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 33285023; 17332895 Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, OMIM:614651 Review for gene: PDSS1 was set to AMBER Added comment: Reviews copied from Optic neuropathy panel (Version 2.35). "Two families reported where optic atrophy and deafness are part of the phenotype. Sources: Literature Zornitza Stark (Australian Genomics), 1 Feb 2021" "Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there are only 2 cases there is not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating. Ivone Leong (Genomics England Curator), 9 Feb 2021" Sources: Literature |
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