Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: ABCA4
Well established gene-disease association. Recent publication reports deep intronic variants that were previously missed in patients where only 1 variant was initially identified, demonstrating the importance of assessing noncoding variants (PMID: 30643219).Created: 21 Apr 2020, 12:48 a.m. | Last Modified: 21 Apr 2020, 12:48 a.m.
Panel Version: 0.18
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200
Publications
Gene: abca4 has been classified as Green List (High Evidence).
Publications for gene: ABCA4 were set to
Tag deep intronic tag was added to gene: ABCA4.
gene: ABCA4 was added gene: ABCA4 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA4 were set to Macular Degeneration (Dominant); Stargardt disease 1, 248200; Macular degeneration, age-related, 2, 153800; Achromatopsia, Cone, and Cone-rod Dystrophy; Retinal dystrophy, early-onset severe, 248200; Stargardt Disease, Recessive; Retinitis pigmentosa 19, 601718; Cone-rod dystrophy 3, 604116; Macular Dystrophy/Degeneration/Stargardt Disease; Fundus flavimaculatus, 248200