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. Author manuscript; available in PMC: 2022 Sep 2.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2022 Jun 2;23:301–329. doi: 10.1146/annurev-genom-121321-093528

Figure 4.

Figure 4

Proportions of individuals with JS, MKS, or isolated NPH who carry two rare deleterious variants in TMEM67. The colors on each bar illustrate the relative frequency of the variants in each diagnostic category: Green indicates two missense variants or small in-frame indels, blue indicates one truncating and one missense variant (including small in-frame indels), red indicates two truncating variants (including nonsense, frameshift and canonical splice-site variants), and yellow indicates two larger deletions. For each bar, n indicates the total number of people found in the literature with each diagnosis who have the variants assessed in this graph. Abbreviations: indel, insertion or deletion; JS, Joubert syndrome; MKS, Meckel syndrome; NPH, nephronophthisis.