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  3. SNX10
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Osteopetrosis

Gene: SNX10

Green List (high evidence)
SNX10 (sorting nexin 10)
EnsemblGeneIds (GRCh38): ENSG00000086300
EnsemblGeneIds (GRCh37): ENSG00000086300
OMIM: 614780, Gene2Phenotype
SNX10 is in 6 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3
Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 8 OMIM:615085
OMIM
614780
Clinvar variants
Variants in SNX10
Penetrance
None
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 615085 to Osteopetrosis, autosomal recessive 8 OMIM:615085

20 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Catherine Snow (Genomics England)

gene: SNX10 was added gene: SNX10 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 615085