Gene Symbol:
HSD17B10
HGNC:4800
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.22
Filters:

Definitive classifications

HSD10 mitochondrial disease
Submitted as: OMIM:300438
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
syndromic X-linked intellectual disability type 10
Submitted as: OMIM:300220
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
HSD10 mitochondrial disease
Submitted as: OMIM:300438
XL
07/22/2015
Evaluated
09/11/2023
Submitted
HSD10 mitochondrial disease
Submitted as: OMIM:300220
XL
07/22/2015
Evaluated
09/11/2023
Submitted
HSD10 mitochondrial disease
XL
10/09/2018
Evaluated
04/21/2024
Submitted

Strong classifications

HSD10 mitochondrial disease
Submitted as: OMIM:300438
XL
07/20/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

syndromic X-linked intellectual disability type 10
Submitted as: Orphanet:85295
XL
09/14/2021
Evaluated
09/14/2021
Submitted
HSD10 disease, infantile type
Submitted as: Orphanet:391428
XL
09/14/2021
Evaluated
09/14/2021
Submitted
HSD10 disease, neonatal type
Submitted as: Orphanet:391457
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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