Gene Symbol:
PNKP
HGNC:9154
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19q13.33
Filters:

Ataxia - oculomotor apraxia type 4 classifications

ataxia - oculomotor apraxia type 4
Submitted as: OMIM:616267
AR
07/22/2015
Evaluated
09/11/2023
Submitted
ataxia - oculomotor apraxia type 4
Submitted as: OMIM:616267
AR
06/24/2020
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
ataxia - oculomotor apraxia type 4
Submitted as: Orphanet:459033
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Charcot-Marie-Tooth disease type 2B2 classifications

Charcot-Marie-Tooth disease type 2B2
Submitted as: Orphanet:101101
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 2B2
Submitted as: OMIM:605589
AR
06/09/2020
Evaluated
11/30/2023
Submitted

Developmental and epileptic encephalopathy classifications

developmental and epileptic encephalopathy
Submitted as: Orphanet:1934
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Microcephaly, seizures, and developmental delay classifications

microcephaly, seizures, and developmental delay
Submitted as: OMIM:613402
AR
12/03/2020
Evaluated
11/30/2023
Submitted
microcephaly, seizures, and developmental delay
AR
04/17/2020
Evaluated
10/18/2023
Submitted

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