Gene Symbol:
PEX10
HGNC:8851
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p36.32
Filters:

Definitive classifications

peroxisome biogenesis disorder 6A (Zellweger)
AR
08/17/2018
Evaluated
10/13/2020
Submitted
peroxisome biogenesis disorder 6A (Zellweger)
Submitted as: OMIM:614870
AR
07/22/2015
Evaluated
07/01/2021
Submitted
peroxisome biogenesis disorder
AR
12/06/2019
Evaluated
01/16/2023
Submitted

Strong classifications

peroxisome biogenesis disorder 6A (Zellweger)
Submitted as: OMIM:614870
AR
08/31/2018
Evaluated
12/24/2020
Submitted

Moderate classifications

peroxisome biogenesis disorder 6B
Submitted as: OMIM:614871
AR
08/31/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

Zellweger spectrum disorders
Submitted as: Orphanet:912
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive ataxia due to PEX10 deficiency
Submitted as: Orphanet:247815
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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