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Amelogenesis imperfecta

Gene: SMARCD2

Red List (low 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two of the four individuals reported initially had dental features, including amelogenesis. Unclear if this is a key feature of the disorder.
Created: 13 Aug 2021, 6:14 a.m. | Last Modified: 13 Aug 2021, 6:14 a.m.
Panel Version: 0.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Specific granule deficiency 2, MIM# 617475

Publications

Created: 13 Aug 2021, 6:14 a.m.
Last Modified: 13 Aug 2021, 6:14 a.m.
Panel version: 0.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Specific granule deficiency 2, 617475
OMIM
601736
Clinvar variants
Variants in SMARCD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcd2 has been classified as Red List (Low Evidence).

7 May 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: SMARCD2 was added gene: SMARCD2 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCD2 were set to 28369036 Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, 617475