Skeletal dysplasia
Gene: SNX10

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Osteopetrosis and related disorders SD gp. >3 unrelated cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 8 615085

Publications

23280965

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SNX10; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment on publications: 9 novel variants reported which are not present in OMIM (August 2016)
Created: 2 Aug 2016, 4:15 p.m.

Comment when marking as ready: Associated with phenotype in OMIM. Only two variants reported
Created: 1 Aug 2016, 7:22 a.m.

Created: 1 Aug 2016, 7:22 a.m.

Panel version: 0.1170

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 8 615085

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
UKGTN
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Osteopetrosis, autosomal recessive 8 615085

OMIM

614780

Clinvar variants

Variants in SNX10

Penetrance

Complete

Publications

23280965

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Osteopetrosis, autosomal recessive 8 615085 for gene: SNX10

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SNX10. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4