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| Bilateral congenital or childhood onset cataracts v2.84 | PGRMC1 | Ivone Leong Tag watchlist tag was added to gene: PGRMC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.84 | PGRMC1 | Ivone Leong Phenotypes for gene: PGRMC1 were changed from Isolated paediatric cataract to Isolated paediatric cataract; cataract, MONDO:0005129 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.83 | PGRMC1 | Ivone Leong Classified gene: PGRMC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.83 | PGRMC1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. As there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.83 | PGRMC1 | Ivone Leong Gene: pgrmc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.82 | PGRMC1 |
Zornitza Stark gene: PGRMC1 was added gene: PGRMC1 was added to Cataracts. Sources: Literature Mode of inheritance for gene: PGRMC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGRMC1 were set to 33867527; 23783460 Phenotypes for gene: PGRMC1 were set to Isolated paediatric cataract Review for gene: PGRMC1 was set to AMBER Added comment: A single large family with X-linked isolated paediatric cataract in males segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated male probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5. Sources: Literature |
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