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Newborns main panel

Gene: SMARCD2

Green List (high evidence)
SMARCD2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2)
EnsemblGeneIds (GRCh38): ENSG00000108604
EnsemblGeneIds (GRCh37): ENSG00000108604
OMIM: 601736, Gene2Phenotype
SMARCD2 is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
clinical validity - 1 case PMID: 33025377 3 families PMID: 28369036 1 case PMID: 33279574 1 case PMID: 35320004 1 case PMID: 36135322
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Specific granule deficiency 2
OMIM
601736
Clinvar variants
Variants in SMARCD2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Specific granule deficiency 2 for gene: SMARCD2

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SMARCD2. Added phenotypes Specific granule deficiency 2 for gene: SMARCD2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SMARCD2. Added phenotypes Specific granule deficiency 2 for gene: SMARCD2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SMARCD2. Added phenotypes Specific granule deficiency 2 for gene: SMARCD2 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SMARCD2. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Specific granule deficiency 2 for gene: SMARCD2

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SMARCD2 was added gene: SMARCD2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal