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 3 panels

1 review

Rebecca Foulger (Genomics England curator)

Witzel et al. (2017, PMID:28369036) reported 4 patients from 3 unrelated consanguineous families with SGD2. 2 unrelated patients had additional features, including incomplete amelogenesis. They identified distinct segregating homozygous mutations in SMARCD2 in all three pedigrees.
Created: 12 Jun 2017, 9:10 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Specific granule deficiency 2, 617475
OMIM
601736
Clinvar variants
Variants in SMARCD2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

12 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SMARCD2 was added to Amelogenesis Imperfectapanel. Sources: Other

12 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SMARCD2 was created by rfoulger