Gene Symbol:
WDR19
HGNC:18340
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
4p14
Filters:

Definitive classifications

cranioectodermal dysplasia 4
Submitted as: OMIM:614378
AR
07/22/2015
Evaluated
09/11/2023
Submitted
asphyxiating thoracic dystrophy 5
Submitted as: OMIM:614376
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

asphyxiating thoracic dystrophy 5
Submitted as: OMIM:614376
AR
07/11/2022
Evaluated
11/30/2023
Submitted
nephronophthisis 13
Submitted as: OMIM:614377
AR
12/15/2018
Evaluated
11/30/2023
Submitted
Senior-Loken syndrome 8
Submitted as: OMIM:616307
AR
04/04/2023
Evaluated
11/30/2023
Submitted
cranioectodermal dysplasia 4
Submitted as: OMIM:614378
AR
02/02/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

Jeune syndrome
Submitted as: Orphanet:474
AR
09/14/2021
Evaluated
09/14/2021
Submitted
cranioectodermal dysplasia
Submitted as: Orphanet:1515
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Senior-Loken syndrome
Submitted as: Orphanet:3156
AR
09/14/2021
Evaluated
09/14/2021
Submitted
nephronophthisis 1
Submitted as: Orphanet:93592
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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