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Intellectual disability

Gene: SMARCD2

Amber List (moderate 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 4 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Candidate ID gene in PMID:26350204 and developmental delay seen in 2 patients with SGD2 (PMID:28369036) but currently insufficient link to ID to include on diagnostic-grade ID panel.
Created: 31 Oct 2017, 9:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Specific granule deficiency 2, 617475 (includes global developmental delay in some patients)

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Specific granule deficiency 2, 617475 (includes global developmental delay in some patients)
Tags
watchlist
OMIM
601736
Clinvar variants
Variants in SMARCD2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to SMARCD2. Panel: Intellectual disability Model of inheritance for gene SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene SMARCD2 was set to ['26350204', ' 28369036']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SMARCD2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SMARCD2 was added to Intellectual disabilitypanel. Sources: Expert Review Red