Proteinuric renal disease
Gene: SMARCAL1
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: SMARCAL1; Suggested initial gene rating: green; Evidence for inclusion: PMID: 11799392; Other comments: Multiple literature reports of gene in association with Schimke immunoosseous dysplasia. One positive cases in >600 Renal referralsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immunoosseous dysplasia #242900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Schimke immuno-osseous dysplasia - renal phenotype is a key partCreated: 27 May 2016, 12:51 p.m.
Currently on UK diagnostic panel, but no positive cases over 300 tested
Listed in several reviewsCreated: 19 Oct 2015, 3:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immuno-osseous dysplasia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia #242900 to Schimke immunoosseous dysplasia, OMIM:242900
Phenotypes for gene: SMARCAL1 were changed from to Schimke immunoosseous dysplasia #242900
Publications for gene: SMARCAL1 were set to
Source NHS GMS was added to SMARCAL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SMARCAL1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SMARCAL1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
SMARCAL1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing