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  3. SMARCAL1
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Stroke

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Moyamoya type strokes or cerebral ischaemic attacks have been reported as features of the condition.
Sources: Literature
Created: 12 May 2020, 7:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schimke immunoosseous dysplasia MIM#242900

Publications

Created: 12 May 2020, 7:51 a.m.

Panel version: 0.51

History Filter Activity

21 May 2021, 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).

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

12 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SMARCAL1 was added gene: SMARCAL1 was added to Stroke. Sources: Literature Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCAL1 were set to 16840568; 9674900; 30356112; 30026777; 20301550 Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia MIM#242900 Review for gene: SMARCAL1 was set to GREEN