Gene Symbol:
INPP5E
HGNC:21474
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9q34.3
Filters:

Ambry Genetics classifications

Joubert syndrome 1
Submitted as: OMIM:213300
AR
10/20/2017
Evaluated
03/02/2021
Submitted

Genomics England PanelApp classifications

AR
02/18/2020
Evaluated
03/31/2021
Submitted

Orphanet classifications

Joubert syndrome
Submitted as: Orphanet:475
AR
09/14/2021
Evaluated
09/14/2021
Submitted
COACH syndrome 1
Submitted as: Orphanet:1454
AR
09/14/2021
Evaluated
09/14/2021
Submitted
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Joubert syndrome with ocular defect
Submitted as: Orphanet:220493
AR
09/14/2021
Evaluated
09/14/2021
Submitted

TGMI|G2P classifications

AR
07/22/2015
Evaluated
11/25/2020
Submitted
Joubert syndrome 1
Submitted as: OMIM:213300
AR
07/22/2015
Evaluated
11/25/2020
Submitted

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