Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: CERKL
More than 20 families reported, though some variants are recurrent (founder).Created: 7 Oct 2021, 3:04 a.m. | Last Modified: 7 Oct 2021, 3:04 a.m.
Panel Version: 0.101
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 26, MIM# 608380
Publications
Gene disease association established. Homozygous and compound heterozygous patients reported.Created: 24 Mar 2020, 6:45 a.m. | Last Modified: 24 Mar 2020, 6:47 a.m.
Panel Version: 0.18
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 26 608380
Publications
Gene: cerkl has been classified as Green List (High Evidence).
Phenotypes for gene: CERKL were changed from Retinitis pigmentosa 26, 608380 to Retinitis pigmentosa 26, MIM# 608380
Publications for gene: CERKL were set to
gene: CERKL was added gene: CERKL was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERKL were set to Retinitis pigmentosa 26, 608380