SMARCAL1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
OMIM: 606622, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SMARCAL1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.225	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Schimke immunoosseous dysplasia (MIM#242900)
Green SMARCAL1 in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schimke immunoosseous dysplasia, MIM# 242900
Green SMARCAL1 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schimke immune-osseous dysplasia MIM# 242900 T cell deficiency Short stature spondyloepiphyseal dysplasia renal dysfunction lymphocytopaenia nephropathy bacterial/viral/fungal infections may present as SCID bone marrow failure
Green SMARCAL1 in Proteinuria Level 2: Renal and urinary tract disorders Version 0.229 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMARCAL1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Schimke immune-osseous dysplasia MIM# 242900 T cell deficiency Short stature spondyloepiphyseal dysplasia renal dysfunction lymphocytopaenia nephropathy bacterial/viral/fungal infections may present as SCID bone marrow failure
Green SMARCAL1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Schimke immunoosseous dysplasia 242900 Schimke immunoosseous dysplasia 242900
Green SMARCAL1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schimke immunoosseous dysplasia, 242900 (3)
Green SMARCAL1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Schimke immunoosseous dysplasia MIM#242900
Green SMARCAL1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Schimke immunoosseous dysplasia
Green SMARCAL1 in Growth failure Version 1.76	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Schimke immune-osseous dysplasia MIM# 242900 T cell deficiency Short stature IUGR spondyloepiphyseal dysplasia growth retardation renal dysfunction lymphocytopaenia nephropathy bacterial/viral/fungal infections may present as SCID bone marrow failure
Green SMARCAL1 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Schimke immunoosseous dysplasia (MIM#242900)
Green SMARCAL1 in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schimke immunoosseous dysplasia, 242900 (3)
Amber SMARCAL1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category A gene Phenotypes Schimke immune-osseous dysplasia MIM# 242900 Tags for review immunological
Green SMARCAL1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schimke immunoosseous dysplasia, 242900 (3)