Submission Details

Submitter:

Classification:
Limited
GENCC:100004
Gene:
Disease:
Leber congenital amaurosis
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
07/01/2020
Evidence/Notes:
A homozygous nonsynonymous mutation was found in a single proband in CLUAP1, a gene required for ciliogenesis and cilia maintenance. Cluap1 knockout zebrafish exhibit photoreceptor cell death as early as 5 days after fertilization, and rescue experiments revealed that our proband’s mutation is significantly hypomorphic https://doi.org/10.1038/gim.2015.205
PubMed IDs:
26820066
Public Report:
Assertion Criteria:
Submitter Submitted Date:
01/19/2021

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