Cerebral vascular malformations

Gene: SMARCAL1

Red List (low 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 18 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only two reported patients with Moyamoya
Created: 14 Dec 2016, 4:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schimke immunoosseous dysplasia 242900

Publications

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SMARCAL1.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SMARCAL1.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

14 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Dec 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

SMARCAL1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

SMARCAL1 was created by agardham