1. Panels
  2. Bone Marrow Failure
  3. SMARCAL1
STRs in panel
Prev Next
Regions in panel
Prev Next

Bone Marrow Failure

Gene: SMARCAL1

Green List (high evidence)
SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1)
EnsemblGeneIds (GRCh38): ENSG00000138375
EnsemblGeneIds (GRCh37): ENSG00000138375
OMIM: 606622, Gene2Phenotype
SMARCAL1 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, over 50 families reported. Approx 10% have bone marrow failure as part of the phenotype.
Created: 15 Sep 2020, 3:53 a.m. | Last Modified: 15 Sep 2020, 3:53 a.m.
Panel Version: 0.145

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schimke immunoosseous dysplasia, MIM# 242900

Publications

Created: 15 Sep 2020, 3:53 a.m.
Last Modified: 15 Sep 2020, 3:53 a.m.
Panel version: 0.145

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Schimke immunoosseous dysplasia, MIM# 242900
OMIM
606622
Clinvar variants
Variants in SMARCAL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcal1 has been classified as Green List (High Evidence).

15 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMARCAL1 were changed from to Schimke immunoosseous dysplasia, MIM# 242900

15 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMARCAL1 were set to

15 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SMARCAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMARCAL1 was added gene: SMARCAL1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMARCAL1 was set to Unknown