1. Panels
  2. Cerebral Palsy
  3. SMARCA2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Cerebral Palsy

Gene: SMARCA2

Red List (low evidence)
SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2)
EnsemblGeneIds (GRCh38): ENSG00000080503
EnsemblGeneIds (GRCh37): ENSG00000080503
OMIM: 600014, Gene2Phenotype
SMARCA2 is in 8 panels

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Created: 27 May 2024, 1:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Blepharophimosis-impaired intellectual development syndrome, MIM#619293; Nicolaides-Baraitser syndrome, MIM#601358

Publications

Created: 27 May 2024, 1:47 p.m.

Panel version: 1.194

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Blepharophimosis-impaired intellectual development syndrome, MIM#619293
  • Nicolaides-Baraitser syndrome, MIM#601358
OMIM
600014
Clinvar variants
Variants in SMARCA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarca2 has been classified as Red List (Low Evidence).

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarca2 has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: SMARCA2 was added gene: SMARCA2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA2 were set to PMID: 38693247 Phenotypes for gene: SMARCA2 were set to Blepharophimosis-impaired intellectual development syndrome, MIM#619293; Nicolaides-Baraitser syndrome, MIM#601358 Review for gene: SMARCA2 was set to RED