Skeletal dysplasia
Gene: SMARCAL1
spondylo-epi-(meta)-physeal dysplasias gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immunoosseous dysplasia 242900
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: SMARCAL1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:09 p.m.
Tier 1Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immunoosseous dysplasia 242900
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900; Schimke immunoosseous dysplasia 242900 to Schimke immunoosseous dysplasia, OMIM:242900
Added phenotypes Schimke immunoosseous dysplasia 242900 for gene: SMARCAL1
Source NHS GMS was added to SMARCAL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for SMARCAL1 were set to Schimke immunoosseous dysplasia 242900
Mode of inheritance for SMARCAL1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SMARCAL1 was created by sleigh
SMARCAL1 was added to Unexplained skeletal dysplasiapanel. Sources: