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  3. SMARCA4
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Cerebral Palsy

Gene: SMARCA4

Red List (low evidence)
SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4)
EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 16 panels

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.
Sources: Literature
Created: 27 May 2024, 1:50 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 4, MIM#614609

Publications

Created: 27 May 2024, 1:50 p.m.

Panel version: 1.194

History Filter Activity

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarca4 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: smarca4 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: SMARCA4 was added gene: SMARCA4 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA4 were set to PMID: 38693247 Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM#614609 Review for gene: SMARCA4 was set to RED