Submission Details

Submitter:

Classification:
Moderate
GENCC:100003
Gene:
Disease:
ciliopathy
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
07/01/2020
Evidence/Notes:
Two unrelated families with hallmark ciliopathy phenotypes. In the first family, the proband presents with hepatic fibrosis, retinitis pigmentosa, and postaxial polydactyly. The second family is a six-generation pedigree affected predominantly by retinitis pigmentosa. Both families were found to carry KIF3B mutation which was segregated with the disease. https://doi.org/10.1016/j.ajhg.2020.04.005
PubMed IDs:
32386558
Public Report:
Assertion Criteria:
Submitter Submitted Date:
01/19/2021

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