Gene Symbol:
PKD1
HGNC:9008
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p13.3
Filters:

Definitive classifications

polycystic kidney disease 1
Submitted as: OMIM:173900
AD
06/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
autosomal dominant polycystic kidney disease
AD
02/26/2021
Evaluated
04/21/2024
Submitted
autosomal recessive polycystic kidney disease
AR
01/11/2023
Evaluated
04/21/2024
Submitted

Strong classifications

polycystic kidney disease 1
Submitted as: OMIM:173900
AD
01/14/2021
Evaluated
03/31/2021
Submitted
AD
01/14/2021
Evaluated
03/31/2021
Submitted
polycystic kidney disease 1
Submitted as: OMIM:173900
AD
06/06/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

autosomal dominant polycystic kidney disease
Submitted as: Orphanet:730
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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