Skeletal dysplasia
Gene: SNX10
Osteopetrosis and related disorders SD gp. >3 unrelated cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 8 615085
Publications
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: greenCreated: 6 Mar 2019, 11:37 a.m.
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 reportedCreated: 1 Aug 2016, 7:22 a.m.
Tier 1Created: 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
Added phenotypes Osteopetrosis, autosomal recessive 8 615085 for gene: SNX10
Source NHS GMS was added to SNX10. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Publications for SNX10 were set to 23280965
This gene has been classified as Red List (Low Evidence).
Phenotypes for SNX10 were set to Osteopetrosis, autosomal recessive 8 615085
Mode of inheritance for SNX10 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
SNX10 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
SNX10 was added to Unexplained skeletal dysplasiapanel. Sources:
SNX10 was created by sleigh