Retinal disordersGene: AGBL5
Comment on list classification: Promoted to green due to additional evidence now published.
Created: 29 Mar 2018, 3:27 p.m.
Comment on list classification: Additional two cases in one family reported in PMID:27764769, compound heterozygous for two variants not previously reported. PMID: 27842159 - a further 3 families reported with different variants.
Created: 29 Mar 2018, 3:26 p.m.
Phenotypes for gene: AGBL5 were changed from Retinitis pigmentosa; Retinitis pigmentosa 75 617023 to Retinitis pigmentosa 75, 617023
Source NHS GMS was added to AGBL5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for AGBL5 were set to Retinitis pigmentosa; Retinitis pigmentosa 75 617023
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for AGBL5 were set to 26720455; 26355662; 27764769; 27842159
AGBL5 was added to Posterior segment abnormalitiespanel. Sources: Other
AGBL5 was created by EllenThomas