Bilateral congenital or childhood onset cataracts
Gene: PGRMC1Comment 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.Created: 14 Sep 2021, 9:24 a.m. | Last Modified: 14 Sep 2021, 9:24 a.m.
Panel Version: 2.83
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: LiteratureCreated: 13 Sep 2021, 8:06 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Isolated paediatric cataract
Publications
Tag watchlist tag was added to gene: PGRMC1.
Phenotypes for gene: PGRMC1 were changed from Isolated paediatric cataract to Isolated paediatric cataract; cataract, MONDO:0005129
Gene: pgrmc1 has been classified as Amber List (Moderate Evidence).
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