Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in Gene2Phenotype but not OMIM. There is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Created: 11 Dec 2020, 2:35 p.m. | Last Modified: 11 Dec 2020, 2:35 p.m.
Panel Version: 2.25
Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Expert list
Created: 8 Jul 2020, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital posterior cataract
Gene: pank4 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: PANK4.
gene: PANK4 was added gene: PANK4 was added to Cataracts. Sources: Expert list Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PANK4 were set to 30585370 Phenotypes for gene: PANK4 were set to Congenital posterior cataract Review for gene: PANK4 was set to AMBER