Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: SMARCA1

Red List (low evidence)

SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1)
EnsemblGeneIds (GRCh38): ENSG00000102038
EnsemblGeneIds (GRCh37): ENSG00000102038
OMIM: 300012, Gene2Phenotype
SMARCA1 is in 1 panel

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

There is currently a low level of gene-disease association in the literature.

PMID: 26740508 - De novo missense variant identified in a female patient diagnosed with classical Rett syndrome. She
had moderate developmental delay, superimposed by regression at around 5 years of age. Currently, at 25 years of age, the patient is severely autistic, non-verbal, can’t walk, has lost purposeful hand use and has hand sterotypies, in addition to seven minor criteria.

PMID: 26539891 - Hemizygous nonsense variant identified in male patient presenting with microcephaly, spasticity, and ID. He also had dysmorphic features similar to those seen in Coffin-Siris syndrome (MIM: 135900) (Figure 6C). Family history was negative. Supplementary table indicated that segregation was completed, but did not state anywhere that variant is de novo.

PMID: 29249292 - review of KO mice. SMARCA1 KO results in increased brain size.
Created: 25 Nov 2020, 12:42 a.m. | Last Modified: 25 Nov 2020, 12:42 a.m.
Panel Version: 0.5422

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability
OMIM
300012
Clinvar variants
Variants in SMARCA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarca1 has been classified as Red List (Low Evidence).

25 Nov 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMARCA1 were changed from to Intellectual disability

25 Nov 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMARCA1 were set to

25 Nov 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SMARCA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

25 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarca1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMARCA1 was added gene: SMARCA1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMARCA1 was set to Unknown