Submission Details

Submitter:

Classification:
Limited
GENCC:100004
Gene:
Disease:
retinitis pigmentosa
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
07/01/2020
Evidence/Notes:
A proband from the consanguineous autosomal recessive retinitis pigmantosa family underwent DNA examination which revealed a homozygous missense variant, c.724G>A; p.V242I, in NEUROD1 which identified as the most likely cause of disease.
PubMed IDs:
25477324
Public Report:
Assertion Criteria:
Submitter Submitted Date:
01/19/2021

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