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  3. SMARCA4
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Congenital diaphragmatic hernia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported as part of a CDH cohort.
Sources: Literature
Created: 21 Jun 2021, 8:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 4, MIM# 614609

Publications

Created: 21 Jun 2021, 8:36 a.m.

Panel version: 0.94

History Filter Activity

21 Jun 2021, 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).

21 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMARCA4 was added gene: SMARCA4 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA4 were set to 33461977 Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM# 614609 Review for gene: SMARCA4 was set to RED